Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_Position End_Position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_File Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID chromosome_name start stop reference variant type gene_name transcript_name transcript_species transcript_source transcript_version strand transcript_status trv_type c_position amino_acid_change ucsc_cons domain all_domains deletion_substructures transcript_error default_gene_name gene_name_source ensembl_gene_id tier title header normal_ref_reads normal_var_reads normal_VAF tumor_ref_reads tumor_var_reads tumor_VAF AADACL4 0 genome.wustl.edu 37 1 12726318 12726318 + Missense_Mutation SNP G G A TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 1 12726318 12726318 G A SNP AADACL4 ENST00000376221 human ensembl 74_37 +1 known missense c.796 p.A266T 0.001 pirsf_Arylacetamide_deacetylase pfam_AB_hydrolase_3,pirsf_Arylacetamide_deacetylase - no_errors AADACL4 HGNC ENSG00000204518 26 0 0.00 13 2 13.33 ABCA12 0 genome.wustl.edu 37 2 215815790 215815790 + Missense_Mutation SNP A A C TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 2 215815790 215815790 A C SNP ABCA12 ENST00000272895 human ensembl 74_37 -1 known missense c.6665 p.F2222C 0.994 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA12 HGNC ENSG00000144452 tier1 - - 50 0 0.00 46 4 8.00 ABCA13 0 genome.wustl.edu 37 7 48315875 48315875 + Silent SNP T T G TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 7 48315875 48315875 T G SNP ABCA13 ENST00000435803 human ensembl 74_37 +1 known silent c.6612 p.L2204 0.975 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA13 HGNC ENSG00000179869 tier1 - - 72 0 0.00 51 27 34.62 ABCA3 0 genome.wustl.edu 37 16 2338177 2338177 + Missense_Mutation SNP C C T TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 16 2338177 2338177 C T SNP ABCA3 ENST00000301732 human ensembl 74_37 -1 known missense c.2854 p.D952N 0.409 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA3 HGNC ENSG00000167972 tier1 rs144138653 - 60 0 0.00 21 19 47.50 ABCC11 0 genome.wustl.edu 37 16 48220864 48220864 + Missense_Mutation SNP T T C TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 16 48220864 48220864 T C SNP ABCC11 ENST00000356608 human ensembl 74_37 -1 known missense c.3071 p.Q1024R 0.151 pfam_ABC_transptr_TM_dom,superfamily_ABC1_TM_dom,pfscan_ABC1_TM_dom pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom - no_errors ABCC11 HGNC ENSG00000121270 tier1 - - 55 0 0.00 26 10 27.78 ABI3BP 0 genome.wustl.edu 37 3 100539928 100539928 + Missense_Mutation SNP G G T TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 3 100539928 100539928 G T SNP ABI3BP ENST00000383691 human ensembl 74_37 -1 known missense c.769 p.L257I 0.002 NULL pfam_Fibronectin_type3,superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors ABI3BP HGNC ENSG00000154175 tier1 - - 68 0 0.00 36 4 10.00 ADAD2 0 genome.wustl.edu 37 16 84230321 84230321 + Missense_Mutation SNP G G T TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 16 84230321 84230321 G T SNP ADAD2 ENST00000268624 human ensembl 74_37 +1 known missense c.1841 p.R614M 0.000 pfam_A_deamin,smart_A_deamin,pfscan_A_deamin pfam_A_deamin,pfam_dsRNA-bd_dom,smart_A_deamin,pfscan_dsRNA-bd_dom,pfscan_A_deamin - no_errors ADAD2 HGNC ENSG00000140955 60 0 0.00 26 4 13.33 ADAM21P1 0 genome.wustl.edu 37 14 70713687 70713687 + RNA SNP C C T TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 14 70713687 70713687 C T SNP ADAM21P1 ENST00000530196 human ensembl 74_37 -1 known rna NULL NULL 0.004 - - - no_errors ADAM21P1 HGNC ENSG00000235812 84 0 0.00 64 6 8.57 ADAM28 0 genome.wustl.edu 37 8 24199233 24199233 + Missense_Mutation SNP G G T TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 8 24199233 24199233 G T SNP ADAM28 ENST00000265769 human ensembl 74_37 +1 known missense c.1793 p.G598V 0.025 smart_ADAM_Cys-rich pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin - no_errors ADAM28 HGNC ENSG00000042980 tier1 - - 72 0 0.00 58 20 25.64 ADAMTS2 0 genome.wustl.edu 37 5 178585827 178585827 + Silent SNP G G A TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 5 178585827 178585827 G A SNP ADAMTS2 ENST00000251582 human ensembl 74_37 -1 known silent c.1029 p.C343 1.000 pfam_Peptidase_M12B,pfscan_Peptidase_M12B pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Pept_M12B_ADAM-TS2,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS2 HGNC ENSG00000087116 tier1 - - 38 0 0.00 18 4 18.18 ADH1A 0 genome.wustl.edu 37 4 100205628 100205628 + Silent SNP C C T TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 4 100205628 100205628 C T SNP ADH1A ENST00000209668 human ensembl 74_37 -1 known silent c.495 p.S165 0.952 superfamily_GroES-like,smart_PKS_ER pfam_ADH_GroES-like,pfam_ADH_C,superfamily_GroES-like,smart_PKS_ER - no_errors ADH1A HGNC ENSG00000187758 tier1 - - 82 0 0.00 17 42 71.19 ADRB2 0 genome.wustl.edu 37 5 148206658 148206659 + Frame_Shift_Ins INS - - T TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 5 148206658 148206659 - T INS ADRB2 ENST00000305988 human ensembl 74_37 +1 known frame_shift_ins c.264_265 p.G89fs 0.996:1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_ADR_fam pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_ADRB2_rcpt,prints_GPCR_Rhodpsn,prints_ADR_fam - no_errors ADRB2 HGNC ENSG00000169252 tier1 41 0 0.00 13 2 13.33 AGO4 0 genome.wustl.edu 37 1 36291647 36291647 + Missense_Mutation SNP C C A TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 1 36291647 36291647 C A SNP AGO4 ENST00000373210 human ensembl 74_37 +1 known missense c.746 p.T249N 1.000 pfam_PAZ_dom,superfamily_PAZ_dom,smart_PAZ_dom,pfscan_PAZ_dom pfam_Piwi,pfam_PAZ_dom,pfam_DUF1785,superfamily_RNaseH-like_dom,superfamily_PAZ_dom,smart_PAZ_dom,smart_Piwi,pfscan_PAZ_dom,pfscan_Piwi - no_errors AGO4 HGNC ENSG00000134698 tier1 - - 47 0 0.00 33 4 10.81 AHCYL2 0 genome.wustl.edu 37 7 129040146 129040146 + Missense_Mutation SNP C C T TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 7 129040146 129040146 C T SNP AHCYL2 ENST00000325006 human ensembl 74_37 +1 known missense c.839 p.A280V 1.000 pfam_Adenosylhomocysteinase,tigrfam_Adenosylhomocysteinase pfam_Adenosylhomocysteinase,pfam_Ado_hCys_hydrolase_NAD-bd,pfam_D-isomer_2_OHA_DH_NAD-bd,tigrfam_Adenosylhomocysteinase - no_errors AHCYL2 HGNC ENSG00000158467 tier1 - - 74 0 0.00 57 4 6.56 AKAP1 0 genome.wustl.edu 37 17 55195798 55195798 + Missense_Mutation SNP A A C TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 17 55195798 55195798 A C SNP AKAP1 ENST00000337714 human ensembl 74_37 +1 known missense c.2557 p.T853P 0.342 NULL pfam_Tudor,pfam_KH_dom_type_1,smart_KH_dom,smart_Tudor,pfscan_Tudor,pfscan_KH_dom_type_1 - no_errors AKAP1 HGNC ENSG00000121057 tier1 - - 47 0 0.00 21 9 30.00 ALPK1 0 genome.wustl.edu 37 4 113345108 113345108 + Missense_Mutation SNP T T C TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 4 113345108 113345108 T C SNP ALPK1 ENST00000509722 human ensembl 74_37 +1 known missense c.329 p.F110S 0.096 NULL NULL - no_errors ALPK1 HGNC ENSG00000073331 88 0 0.00 30 2 6.25 AMICA1 0 genome.wustl.edu 37 11 118083141 118083141 + Nonsense_Mutation SNP G G T TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 11 118083141 118083141 G T SNP AMICA1 ENST00000356289 human ensembl 74_37 -1 known nonsense c.179 p.S60* 0.064 pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom - no_errors AMICA1 HGNC ENSG00000160593 67 0 0.00 35 4 10.26 AMPD1 0 genome.wustl.edu 37 1 115221045 115221045 + Missense_Mutation SNP G G A TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 1 115221045 115221045 G A SNP AMPD1 ENST00000520113 human ensembl 74_37 -1 known missense c.1100 p.T367I 0.995 pfam_A/AMP_deaminase_dom,pirsf_AMP_deaminase,tigrfam_AMP_deaminase pfam_A/AMP_deaminase_dom,pirsf_AMP_deaminase,tigrfam_AMP_deaminase - no_errors AMPD1 HGNC ENSG00000116748 tier1 - - 57 0 0.00 32 6 15.79 AMY2B 0 genome.wustl.edu 37 1 104112709 104112709 + RNA SNP C C G TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 1 104112709 104112709 C G SNP AMY2B ENST00000491397 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors AMY2B HGNC ENSG00000240038 tier1 - - 41 0 0.00 38 4 9.52 ANK2 0 genome.wustl.edu 37 4 114275201 114275201 + Silent SNP G G A TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 4 114275201 114275201 G A SNP ANK2 ENST00000357077 human ensembl 74_37 +1 known silent c.5427 p.A1809 0.000 NULL pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,smart_Ankyrin_rpt,smart_ZU5,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_ZU5,prints_Ankyrin_rpt - no_errors ANK2 HGNC ENSG00000145362 tier1 - - 45 0 0.00 12 3 20.00 ANKRD30BP2 0 genome.wustl.edu 37 21 14418680 14418680 + RNA SNP T T C TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 21 14418680 14418680 T C SNP ANKRD30BP2 ENST00000507941 human ensembl 74_37 +1 known rna NULL NULL 0.045 - - - no_errors ANKRD30BP2 HGNC ENSG00000224309 tier1 - - 172 0 0.00 80 14 14.74 ANKRD36BP2 0 genome.wustl.edu 37 2 89102884 89102884 + RNA SNP G G T TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 2 89102884 89102884 G T SNP ANKRD36BP2 ENST00000393525 human ensembl 74_37 +1 known rna NULL NULL 0.019 - - - no_errors ANKRD36BP2 HGNC ENSG00000230006 10 0 0.00 5 4 44.44 AQP3 0 genome.wustl.edu 37 9 33442476 33442476 + Missense_Mutation SNP A A G TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 9 33442476 33442476 A G SNP AQP3 ENST00000297991 human ensembl 74_37 -1 known missense c.533 p.I178T 1.000 pfam_MIP,superfamily_Aquaporin-like,prints_MIP,tigrfam_MIP pfam_MIP,superfamily_Aquaporin-like,prints_Aquaporin_3,prints_MIP,tigrfam_MIP - no_errors AQP3 HGNC ENSG00000165272 50 0 0.00 20 4 16.67 ARHGAP32 0 genome.wustl.edu 37 11 128844193 128844193 + Missense_Mutation SNP G G T TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 11 128844193 128844193 G T SNP ARHGAP32 ENST00000310343 human ensembl 74_37 -1 known missense c.2857 p.P953T 1.000 NULL pfam_RhoGAP_dom,pfam_SH3_domain,pfam_SH3_2,pfam_Phox,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_Phox,smart_SH3_domain,smart_RhoGAP_dom,pfscan_SH3_domain,pfscan_RhoGAP_dom - no_errors ARHGAP32 HGNC ENSG00000134909 41 0 0.00 34 2 5.56 ARHGEF10 0 genome.wustl.edu 37 8 1851472 1851472 + Missense_Mutation SNP G G A TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 8 1851472 1851472 G A SNP ARHGEF10 ENST00000398564 human ensembl 74_37 +1 known missense c.1751 p.G584D 1.000 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain pfam_DH-domain,superfamily_DH-domain,superfamily_WD40_repeat_dom,smart_DH-domain,pfscan_DH-domain - no_errors ARHGEF10 HGNC ENSG00000104728 27 0 0.00 38 2 5.00 ARHGEF18 0 genome.wustl.edu 37 19 7511987 7511987 + Missense_Mutation SNP A A T TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 19 7511987 7511987 A T SNP ARHGEF18 ENST00000359920 human ensembl 74_37 +1 known missense c.1106 p.H369L 1.000 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors ARHGEF18 HGNC ENSG00000104880 68 0 0.00 63 4 5.97 ARSJ 0 genome.wustl.edu 37 4 114823494 114823494 + Missense_Mutation SNP T T A TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 4 114823494 114823494 T A SNP ARSJ ENST00000315366 human ensembl 74_37 -1 known missense c.1736 p.K579M 0.628 NULL pfam_Sulfatase,superfamily_Alkaline_phosphatase_core - no_errors ARSJ HGNC ENSG00000180801 35 0 0.00 25 2 7.41 ART5 0 genome.wustl.edu 37 11 3661402 3661402 + Missense_Mutation SNP G G T TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 11 3661402 3661402 G T SNP ART5 ENST00000359918 human ensembl 74_37 -1 known missense c.257 p.P86H 0.579 pfam_ART pfam_ART,prints_ART - no_errors ART5 HGNC ENSG00000167311 tier1 - - 59 0 0.00 51 5 8.93 ASH1L 0 genome.wustl.edu 37 1 155448058 155448058 + Missense_Mutation SNP G G T TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 1 155448058 155448058 G T SNP ASH1L ENST00000368346 human ensembl 74_37 -1 known missense c.4603 p.R1535S 1.000 NULL pfam_SET_dom,pfam_BAH_dom,pfam_Bromodomain,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_AT_hook_DNA-bd_motif,smart_AWS,smart_SET_dom,smart_Bromodomain,smart_Znf_PHD,smart_BAH_dom,pfscan_AWS,pfscan_BAH_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Bromodomain - no_errors ASH1L HGNC ENSG00000116539 tier1 - - 71 0 0.00 56 4 6.67 ASTN2 0 genome.wustl.edu 37 9 120176909 120176911 + In_Frame_Del DEL GCG GCG - TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 GCG GCG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 9 120176909 120176911 GCG - DEL ASTN2 ENST00000313400 human ensembl 74_37 -1 known in_frame_del c.308_306 p.A103in_frame_del 1.000:1.000:1.000 NULL pfam_MACPF,superfamily_Fibronectin_type3,smart_MACPF - no_errors ASTN2 HGNC ENSG00000148219 tier1 35 0 0.00 16 3 15.79 AUNIP 0 genome.wustl.edu 37 1 26185816 26185816 + Silent SNP G G A TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 1 26185816 26185816 G A SNP AUNIP ENST00000538789 human ensembl 74_37 -1 known silent c.33 p.C11 0.969 NULL NULL - no_errors AUNIP HGNC ENSG00000127423 tier1 - - 41 0 0.00 25 5 16.67 B4GALT3 0 genome.wustl.edu 37 1 161144995 161144995 + Missense_Mutation SNP T T C TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 1 161144995 161144995 T C SNP B4GALT3 ENST00000319769 human ensembl 74_37 -1 known missense c.277 p.S93G 1.000 pfam_Galactosyl_T_C pfam_Galactosyl_T_C,prints_Galactosyl_T - no_errors B4GALT3 HGNC ENSG00000158850 tier1 - - 60 0 0.00 65 4 5.80 BAI3 0 genome.wustl.edu 37 6 70042868 70042868 + Silent SNP A A G TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 6 70042868 70042868 A G SNP BAI3 ENST00000370598 human ensembl 74_37 +1 known silent c.3156 p.G1052 0.981 pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_Thrombospondin_1_rpt,pfam_GPS_dom,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_CUB_dom,pfscan_GPS_dom,pfscan_Thrombospondin_1_rpt,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_brain-spec_angio_inhib,prints_GPCR_2_secretin-like - no_errors BAI3 HGNC ENSG00000135298 tier1 - - 62 0 0.00 65 9 12.16 BCLAF1 0 genome.wustl.edu 37 6 136599172 136599172 + Silent SNP G G T TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 6 136599172 136599172 G T SNP BCLAF1 ENST00000531224 human ensembl 74_37 -1 known silent c.847 p.R283 1.000 NULL NULL - no_errors BCLAF1 HGNC ENSG00000029363 tier1 - - 180 0 0.00 103 13 11.21 BCR 0 genome.wustl.edu 37 22 23656185 23656185 + Missense_Mutation SNP G G A TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 22 23656185 23656185 G A SNP BCR ENST00000305877 human ensembl 74_37 +1 known missense c.3488 p.C1163Y 1.000 pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom pfam_RhoGAP_dom,pfam_Bcr-Abl_oncoprot_oligo,pfam_DH-domain,pfam_C2_dom,pfam_Pleckstrin_homology,superfamily_Rho_GTPase_activation_prot,superfamily_DH-domain,superfamily_Bcr-Abl_oncoprot_oligo,superfamily_C2_dom,smart_DH-domain,smart_Pleckstrin_homology,smart_C2_dom,smart_RhoGAP_dom,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom,pfscan_DH-domain - no_errors BCR HGNC ENSG00000186716 tier1 - - 138 0 0.00 75 5 6.25 BEX1 0 genome.wustl.edu 37 X 102318197 102318197 + Missense_Mutation SNP C C A TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 X 102318197 102318197 C A SNP BEX1 ENST00000372728 human ensembl 74_37 -1 known missense c.6 p.E2D 0.022 pirsf_BEX pfam_TF_A-like/BEX-like,pirsf_BEX - no_errors BEX1 HGNC ENSG00000133169 42 0 0.00 33 3 8.33 BZW1 0 genome.wustl.edu 37 2 201684807 201684807 + Missense_Mutation SNP A A G TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 2 201684807 201684807 A G SNP BZW1 ENST00000409600 human ensembl 74_37 +1 known missense c.1069 p.K357E 1.000 pfam_W2_domain,superfamily_ARM-type_fold,smart_W2_domain pfam_W2_domain,superfamily_ARM-type_fold,smart_W2_domain - no_errors BZW1 HGNC ENSG00000082153 39 0 0.00 34 2 5.56 C12orf55 0 genome.wustl.edu 37 12 96958311 96958311 + Nonsense_Mutation SNP G G T TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 12 96958311 96958311 G T SNP C12orf55 ENST00000524981 human ensembl 74_37 +1 putative nonsense c.2476 p.G826* 0.000 NULL superfamily_Fibronectin_type3 - no_errors C12orf55 HGNC ENSG00000188596 tier1 - - 50 0 0.00 23 6 20.69 C12orf61 0 genome.wustl.edu 37 12 62996769 62996769 + Missense_Mutation SNP C C T TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 12 62996769 62996769 C T SNP C12orf61 ENST00000408887 human ensembl 74_37 -1 known missense c.350 p.R117H 0.010 NULL NULL - no_errors C12orf61 HGNC ENSG00000221949 tier1 - - 76 0 0.00 48 4 7.69 C2orf15 0 genome.wustl.edu 37 2 99811355 99811355 + Missense_Mutation SNP G G A TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 2 99811355 99811355 G A SNP C2orf15 ENST00000424491 human ensembl 74_37 +1 known missense c.364 p.E122K 0.343 pfam_Ribosomal_L30_ferredoxin-like,superfamily_Ribosomal_L30_ferredoxin-like pfam_Ribosomal_L30_ferredoxin-like,superfamily_Ribosomal_L30_ferredoxin-like - no_errors C2orf15 HGNC ENSG00000241962 60 0 0.00 42 3 6.67 C5orf34 0 genome.wustl.edu 37 5 43490755 43490755 + Missense_Mutation SNP A A G TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 5 43490755 43490755 A G SNP C5orf34 ENST00000306862 human ensembl 74_37 -1 known missense c.1657 p.S553P 0.001 NULL NULL - no_errors C5orf34 HGNC ENSG00000172244 tier1 - - 58 0 0.00 68 14 17.07 C8B 0 genome.wustl.edu 37 1 57431535 57431535 + Silent SNP G G T TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 1 57431535 57431535 G T SNP C8B ENST00000371237 human ensembl 74_37 -1 known silent c.87 p.G29 0.877 NULL pfam_MACPF,pfam_LDrepeatLR_classA_rpt,superfamily_Thrombospondin_1_rpt,superfamily_LDrepeatLR_classA_rpt,smart_Thrombospondin_1_rpt,smart_LDrepeatLR_classA_rpt,smart_MACPF,pfscan_LDrepeatLR_classA_rpt,pfscan_Thrombospondin_1_rpt,prints_MAC_perforin - no_errors C8B HGNC ENSG00000021852 tier1 - - 33 0 0.00 26 6 18.75 C9orf89 0 genome.wustl.edu 37 9 95872944 95872944 + Missense_Mutation SNP G G A TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 9 95872944 95872944 G A SNP C9orf89 ENST00000466409 human ensembl 74_37 +1 known missense c.245 p.R82Q 0.990 superfamily_DEATH-like_dom superfamily_DEATH-like_dom - no_errors C9orf89 HGNC ENSG00000165233 tier1 - - 126 0 0.00 73 5 6.41 CACNA1D 0 genome.wustl.edu 37 3 53796067 53796067 + Missense_Mutation SNP G G A TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 3 53796067 53796067 G A SNP CACNA1D ENST00000288139 human ensembl 74_37 +1 known missense c.3889 p.V1297I 1.000 pfam_Ion_trans_dom,pfam_PKD1_2_channel pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_L_a1su,prints_LVDCC_a1dsu - no_errors CACNA1D HGNC ENSG00000157388 tier1 - - 29 0 0.00 19 10 34.48 CAPN11 0 genome.wustl.edu 37 6 44137711 44137711 + Silent SNP C C T TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 6 44137711 44137711 C T SNP CAPN11 ENST00000398776 human ensembl 74_37 +1 known silent c.408 p.L136 0.239 pfam_Peptidase_C2_calpain_cat,smart_Peptidase_C2_calpain_cat,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,smart_EF_hand_dom,pfscan_EF_hand_dom,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease - no_errors CAPN11 HGNC ENSG00000137225 69 0 0.00 73 4 5.19 CAPN6 0 genome.wustl.edu 37 X 110495608 110495608 + Missense_Mutation SNP T T A TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 X 110495608 110495608 T A SNP CAPN6 ENST00000324068 human ensembl 74_37 -1 known missense c.626 p.E209V 0.169 pfam_Peptidase_C2_calpain_cat,smart_Peptidase_C2_calpain_cat,pfscan_Peptidase_C2_calpain_cat pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,pfam_C2_dom,superfamily_Calpain_domain_III,superfamily_C2_dom,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,smart_C2_dom,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease - no_errors CAPN6 HGNC ENSG00000077274 tier1 - - 39 0 0.00 32 4 11.11 CBLN4 0 genome.wustl.edu 37 20 54575877 54575878 + Frame_Shift_Ins INS - - A TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 20 54575877 54575878 - A INS CBLN4 ENST00000064571 human ensembl 74_37 -1 known frame_shift_ins c.318_317 p.T107fs 1.000:1.000 pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q - no_errors CBLN4 HGNC ENSG00000054803 tier1 23 0 0.00 34 7 17.07 CBX3 0 genome.wustl.edu 37 7 26246030 26246030 + Nonsense_Mutation SNP G G T TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 7 26246030 26246030 G T SNP CBX3 ENST00000337620 human ensembl 74_37 +1 known nonsense c.67 p.E23* 1.000 superfamily_Chromodomain-like pfam_Chromo_shadow_dom,pfam_Chromo_domain,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Chromo_shadow_dom,pfscan_Chromo_domain/shadow,prints_Chromo_dom_subgr - no_errors CBX3 HGNC ENSG00000122565 tier1 - - 49 0 0.00 47 4 7.84 CCAR1 0 genome.wustl.edu 37 10 70507295 70507295 + Missense_Mutation SNP G G T TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 10 70507295 70507295 G T SNP CCAR1 ENST00000265872 human ensembl 74_37 +1 known missense c.798 p.Q266H 1.000 NULL pfam_SAP_dom,superfamily_NA-bd_OB-fold,smart_SAP_dom,pfscan_SAP_dom - no_errors CCAR1 HGNC ENSG00000060339 tier1 - - 99 0 0.00 74 4 5.13 CCDC112 0 genome.wustl.edu 37 5 114606915 114606915 + Nonsense_Mutation SNP C C A TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 5 114606915 114606915 C A SNP CCDC112 ENST00000379611 human ensembl 74_37 -1 known nonsense c.1327 p.E443* 1.000 NULL superfamily_Homeodomain-like - no_errors CCDC112 HGNC ENSG00000164221 tier1 - - 45 0 0.00 17 3 15.00 CCDC6 0 genome.wustl.edu 37 10 61566744 61566744 + Missense_Mutation SNP T T C TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 10 61566744 61566744 T C SNP CCDC6 ENST00000263102 human ensembl 74_37 -1 known missense c.940 p.R314G 1.000 pfam_DUF2046 pfam_DUF2046 - no_errors CCDC6 HGNC ENSG00000108091 71 0 0.00 75 4 5.06 CCDC8 0 genome.wustl.edu 37 19 46915557 46915557 + Missense_Mutation SNP G G A TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 19 46915557 46915557 G A SNP CCDC8 ENST00000307522 human ensembl 74_37 -1 known missense c.511 p.R171C 0.718 NULL NULL - no_errors CCDC8 HGNC ENSG00000169515 tier1 - - 25 0 0.00 10 9 47.37 CCNC 0 genome.wustl.edu 37 6 100006343 100006343 + Missense_Mutation SNP C C T TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 6 100006343 100006343 C T SNP CCNC ENST00000482541 human ensembl 74_37 -1 putative missense c.376 p.D126N 0.000 pfam_Cyclin_N,superfamily_Cyclin-like,smart_Cyclin-like pfam_Cyclin_N,superfamily_Cyclin-like,smart_Cyclin-like - no_errors CCNC HGNC ENSG00000112237 tier1 - - 55 0 0.00 23 21 47.73 CD2 0 genome.wustl.edu 37 1 117311133 117311133 + Missense_Mutation SNP G G A TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 1 117311133 117311133 G A SNP CD2 ENST00000369478 human ensembl 74_37 +1 known missense c.784 p.G262S 0.000 NULL pfam_Ig_C2-set,pfam_Ig_V-set,prints_CD2 - no_errors CD2 HGNC ENSG00000116824 tier1 - - 40 0 0.00 23 4 14.81 CD46 0 genome.wustl.edu 37 1 207930986 207930986 + Missense_Mutation SNP G G T TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 1 207930986 207930986 G T SNP CD46 ENST00000322875 human ensembl 74_37 +1 known missense c.388 p.G130C 0.941 pirsf_M_CF_CD46,pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pirsf_M_CF_CD46,pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors CD46 HGNC ENSG00000117335 63 0 0.00 57 4 6.56 CD5 0 genome.wustl.edu 37 11 60885646 60885646 + Splice_Site SNP G G A TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 11 60885646 60885646 G A SNP CD5 ENST00000347785 human ensembl 74_37 +1 known splice_site c.95-1 e3-1 0.234 - - - no_errors CD5 HGNC ENSG00000110448 58 0 0.00 38 2 5.00 CELP 0 genome.wustl.edu 37 9 135957946 135957946 + RNA SNP C C T TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 9 135957946 135957946 C T SNP CELP ENST00000411440 human ensembl 74_37 +1 known rna NULL NULL 0.622 - - - no_errors CELP HGNC ENSG00000170827 tier1 - - 52 0 0.00 34 4 10.53 CELSR1 0 genome.wustl.edu 37 22 46760103 46760103 + Missense_Mutation SNP G G A TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 22 46760103 46760103 G A SNP CELSR1 ENST00000262738 human ensembl 74_37 -1 known missense c.8825 p.T2942M 0.775 NULL pfam_Cadherin,pfam_DUF3497,pfam_Laminin_G,pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_EG-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like - no_errors CELSR1 HGNC ENSG00000075275 48 0 0.00 36 3 7.69 CENPF 0 genome.wustl.edu 37 1 214814805 214814805 + Nonsense_Mutation SNP A A T TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 1 214814805 214814805 A T SNP CENPF ENST00000366955 human ensembl 74_37 +1 known nonsense c.3124 p.K1042* 0.812 NULL pfam_Centromere_CenpF_N,pfam_Centromere_CenpF_leu-rich_rpt,pfam_CenpF/LEK1_Rb-prot-bd - no_errors CENPF HGNC ENSG00000117724 30 0 0.00 29 2 6.45 CHD2 0 genome.wustl.edu 37 15 93485157 93485157 + Silent SNP C C A TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 15 93485157 93485157 C A SNP CHD2 ENST00000420239 human ensembl 74_37 +1 known silent c.798 p.V266 0.997 pfam_Chromo_domain,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,pfscan_Chromo_domain/shadow pfam_Chromo_domain,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,pfscan_Chromo_domain/shadow - no_errors CHD2 HGNC ENSG00000173575 55 0 0.00 31 3 8.82 CHIA 0 genome.wustl.edu 37 1 111861155 111861155 + Missense_Mutation SNP C C T TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 1 111861155 111861155 C T SNP CHIA ENST00000343320 human ensembl 74_37 +1 known missense c.770 p.A257V 0.992 pfam_Glyco_hydro18cat,superfamily_Glycoside_hydrolase_SF,smart_Chitinase_II pfam_Glyco_hydro18cat,pfam_Chitin-bd_dom,superfamily_Glycoside_hydrolase_SF,superfamily_Chitin-bd_dom,smart_Chitinase_II,smart_Chitin-bd_dom,pfscan_Chitin-bd_dom - no_errors CHIA HGNC ENSG00000134216 54 0 0.00 28 3 9.68 CHL1 0 genome.wustl.edu 37 3 423958 423958 + Missense_Mutation SNP T T G TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 3 423958 423958 T G SNP CHL1 ENST00000256509 human ensembl 74_37 +1 known missense c.1973 p.I658S 0.147 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors CHL1 HGNC ENSG00000134121 tier1 - - 65 0 0.00 36 6 14.29 CHPF2 0 genome.wustl.edu 37 7 150932498 150932498 + Missense_Mutation SNP G G A TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 7 150932498 150932498 G A SNP CHPF2 ENST00000035307 human ensembl 74_37 +1 known missense c.628 p.A210T 0.999 pfam_Fringe-like pfam_Chond_GalNAc,pfam_Fringe-like - no_errors CHPF2 HGNC ENSG00000033100 38 0 0.00 34 2 5.41 CHRNG 0 genome.wustl.edu 37 2 233409225 233409225 + Missense_Mutation SNP G G A TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 2 233409225 233409225 G A SNP CHRNG ENST00000389494 human ensembl 74_37 +1 known missense c.1184 p.R395H 0.985 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel - no_errors CHRNG HGNC ENSG00000196811 tier1 - - 56 0 0.00 37 12 24.49 CHST7 0 genome.wustl.edu 37 X 46433672 46433672 + Silent SNP G G A TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 X 46433672 46433672 G A SNP CHST7 ENST00000276055 human ensembl 74_37 +1 known silent c.306 p.Q102 0.906 pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,pirsf_Carbohydrate_sulfotransferase pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,pirsf_Carbohydrate_sulfotransferase - no_errors CHST7 HGNC ENSG00000147119 tier1 - - 57 0 0.00 34 4 10.53 CLSTN3 0 genome.wustl.edu 37 12 7301683 7301683 + Missense_Mutation SNP G G A TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 12 7301683 7301683 G A SNP CLSTN3 ENST00000266546 human ensembl 74_37 +1 known missense c.1963 p.A655T 0.998 NULL pfam_Cadherin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CLSTN3 HGNC ENSG00000139182 47 0 0.00 46 4 8.00 CNGA1 0 genome.wustl.edu 37 4 47939078 47939078 + Missense_Mutation SNP C C T TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 4 47939078 47939078 C T SNP CNGA1 ENST00000402813 human ensembl 74_37 -1 known missense c.1640 p.R547H 0.980 superfamily_cNMP-bd-like pfam_Ion_trans_dom,pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom - no_errors CNGA1 HGNC ENSG00000198515 tier1 - - 28 0 0.00 23 10 30.30 CNRIP1 0 genome.wustl.edu 37 2 68544362 68544362 + Missense_Mutation SNP G G A TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 2 68544362 68544362 G A SNP CNRIP1 ENST00000263655 human ensembl 74_37 -1 known missense c.257 p.T86M 0.888 NULL NULL - no_errors CNRIP1 HGNC ENSG00000119865 tier1 - - 64 0 0.00 56 4 6.67 CNTNAP4 0 genome.wustl.edu 37 16 76592524 76592524 + Missense_Mutation SNP A A G TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 16 76592524 76592524 A G SNP CNTNAP4 ENST00000307431 human ensembl 74_37 +1 known missense c.3868 p.S1290G 1.000 NULL pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G - no_errors CNTNAP4 HGNC ENSG00000152910 tier1 - - 53 0 0.00 36 5 12.20 COL11A2 0 genome.wustl.edu 37 6 33144959 33144959 + Missense_Mutation SNP T T G TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 6 33144959 33144959 T G SNP COL11A2 ENST00000341947 human ensembl 74_37 -1 known missense c.2015 p.K672T 1.000 NULL pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL11A2 HGNC ENSG00000204248 tier1 - - 41 0 0.00 23 5 17.86 CSMD2 0 genome.wustl.edu 37 1 34238271 34238271 + Missense_Mutation SNP G G T TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 1 34238271 34238271 G T SNP CSMD2 ENST00000373381 human ensembl 74_37 -1 known missense c.1745 p.T582K 0.946 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP - no_errors CSMD2 HGNC ENSG00000121904 34 0 0.00 31 4 11.43 CSTF2 0 genome.wustl.edu 37 X 100081702 100081702 + Missense_Mutation SNP C C T TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 X 100081702 100081702 C T SNP CSTF2 ENST00000415585 human ensembl 74_37 +1 known missense c.782 p.P261L 0.279 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors CSTF2 HGNC ENSG00000101811 49 0 0.00 41 4 8.89 CT47B1 0 genome.wustl.edu 37 X 120008762 120008762 + Missense_Mutation SNP C C T TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 X 120008762 120008762 C T SNP CT47B1 ENST00000371311 human ensembl 74_37 -1 known missense c.763 p.V255M 0.000 NULL NULL - no_errors CT47B1 HGNC ENSG00000236446 tier1 - - 86 0 0.00 79 5 5.88 CXXC11 0 genome.wustl.edu 37 2 242815414 242815414 + Silent SNP G G A TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 2 242815414 242815414 G A SNP CXXC11 ENST00000343216 human ensembl 74_37 +1 known silent c.1707 p.P569 0.004 NULL NULL - no_errors CXXC11 HGNC ENSG00000188011 tier1 - - 97 0 0.00 51 7 12.07 CYP4A22 0 genome.wustl.edu 37 1 47609456 47609456 + Missense_Mutation SNP G G A TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 1 47609456 47609456 G A SNP CYP4A22 ENST00000371891 human ensembl 74_37 +1 known missense c.658 p.A220T 0.382 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-II,prints_Cyt_P450_E_grp-IV - no_errors CYP4A22 HGNC ENSG00000162365 105 0 0.00 63 4 5.97 D2HGDH 0 genome.wustl.edu 37 2 242681948 242681948 + Missense_Mutation SNP C C T TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 2 242681948 242681948 C T SNP D2HGDH ENST00000321264 human ensembl 74_37 +1 known missense c.449 p.T150I 1.000 pfam_Oxid_FAD_bind_N,superfamily_FAD-bd_2 pfam_FAD-linked_oxidase_C,pfam_Oxid_FAD_bind_N,superfamily_FAD-bd_2,superfamily_FAD-linked_Oxase-like_C - no_errors D2HGDH HGNC ENSG00000180902 15 0 0.00 17 4 19.05 DACT2 0 genome.wustl.edu 37 6 168708819 168708819 + Missense_Mutation SNP G G C TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 6 168708819 168708819 G C SNP DACT2 ENST00000366795 human ensembl 74_37 -1 known missense c.1618 p.P540A 0.000 NULL NULL - no_errors DACT2 HGNC ENSG00000164488 tier1 - - 86 0 0.00 63 6 8.70 DCDC1 0 genome.wustl.edu 37 11 31263095 31263095 + Nonsense_Mutation SNP C C A TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 11 31263095 31263095 C A SNP DCDC1 ENST00000597505 human ensembl 74_37 -1 putative nonsense c.1123 p.G375* 1.000 NULL pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Doublecortin_dom,pfscan_Doublecortin_dom,pfscan_Ricin_B_lectin - no_errors DCDC1 HGNC ENSG00000170959 tier1 - - 72 0 0.00 53 8 13.11 DCLK3 0 genome.wustl.edu 37 3 36779750 36779750 + Missense_Mutation SNP C C T TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 3 36779750 36779750 C T SNP DCLK3 ENST00000416516 human ensembl 74_37 -1 known missense c.401 p.G134D 0.553 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors DCLK3 HGNC ENSG00000163673 43 0 0.00 38 3 7.32 DCLRE1A 0 genome.wustl.edu 37 10 115609026 115609026 + Missense_Mutation SNP T T C TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 10 115609026 115609026 T C SNP DCLRE1A ENST00000361384 human ensembl 74_37 -1 known missense c.1838 p.D613G 0.907 NULL pfam_DRMBL - no_errors DCLRE1A HGNC ENSG00000198924 tier1 - - 54 0 0.00 39 6 13.33 DCST1 0 genome.wustl.edu 37 1 155013913 155013913 + Missense_Mutation SNP C C A TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 1 155013913 155013913 C A SNP DCST1 ENST00000295542 human ensembl 74_37 +1 known missense c.572 p.S191Y 0.730 NULL pfam_DC_STAMP-like,pfscan_Znf_RING - no_errors DCST1 HGNC ENSG00000163357 tier1 - - 46 0 0.00 48 12 20.00 DDB2 0 genome.wustl.edu 37 11 47254427 47254427 + Silent SNP C C T TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 11 47254427 47254427 C T SNP DDB2 ENST00000256996 human ensembl 74_37 +1 known silent c.519 p.Y173 0.990 superfamily_WD40_repeat_dom,smart_WD40_repeat pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DDB2 HGNC ENSG00000134574 tier1 - - 55 0 0.00 45 4 8.16 DECR1 0 genome.wustl.edu 37 8 91063956 91063956 + Missense_Mutation SNP G G T TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 8 91063956 91063956 G T SNP DECR1 ENST00000220764 human ensembl 74_37 +1 known missense c.937 p.D313Y 0.031 NULL pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,prints_Glc/ribitol_DH - no_errors DECR1 HGNC ENSG00000104325 tier1 - - 73 0 0.00 59 4 6.35 DGKI 0 genome.wustl.edu 37 7 137075144 137075144 + RNA SNP A A G TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 7 137075144 137075144 A G SNP DGKI ENST00000494390 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors DGKI HGNC ENSG00000157680 tier1 - - 37 0 0.00 12 5 29.41 DNAH5 0 genome.wustl.edu 37 5 13845021 13845021 + Silent SNP C C T TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 5 13845021 13845021 C T SNP DNAH5 ENST00000265104 human ensembl 74_37 -1 known silent c.5196 p.A1732 0.464 pfam_Dynein_heavy_dom-2 pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH5 HGNC ENSG00000039139 tier1 - - 56 0 0.00 47 26 35.62 DNAH9 0 genome.wustl.edu 37 17 11573044 11573044 + Missense_Mutation SNP C C A TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 17 11573044 11573044 C A SNP DNAH9 ENST00000262442 human ensembl 74_37 +1 known missense c.3286 p.L1096M 0.937 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH9 HGNC ENSG00000007174 tier1 - - 27 0 0.00 32 7 17.95 DNAH9 0 genome.wustl.edu 37 17 11840831 11840831 + Missense_Mutation SNP G G A TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 17 11840831 11840831 G A SNP DNAH9 ENST00000262442 human ensembl 74_37 +1 known missense c.12652 p.E4218K 1.000 pfam_Dynein_heavy_dom pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH9 HGNC ENSG00000007174 tier1 - - 61 0 0.00 41 11 21.15 DOCK10 0 genome.wustl.edu 37 2 225662608 225662608 + Missense_Mutation SNP T T C TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 2 225662608 225662608 T C SNP DOCK10 ENST00000258390 human ensembl 74_37 -1 known missense c.4585 p.N1529D 1.000 superfamily_ARM-type_fold pfam_DOCK_C,pfam_DOCK_C/D_N,pfam_Pleckstrin_homology,superfamily_ARM-type_fold,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors DOCK10 HGNC ENSG00000135905 tier1 - - 68 0 0.00 38 8 17.39 DOCK11 0 genome.wustl.edu 37 X 117814625 117814625 + Nonsense_Mutation SNP G G T TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 X 117814625 117814625 G T SNP DOCK11 ENST00000276202 human ensembl 74_37 +1 known nonsense c.5641 p.E1881* 1.000 pfam_DOCK_C pfam_DOCK_C,pfam_DOCK_C/D_N,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors DOCK11 HGNC ENSG00000147251 53 0 0.00 39 4 9.30 DPCR1 0 genome.wustl.edu 37 6 30917649 30917649 + Missense_Mutation SNP G G A TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 6 30917649 30917649 G A SNP DPCR1 ENST00000462446 human ensembl 74_37 +1 novel missense c.1408 p.E470K 0.748 NULL NULL - no_errors DPCR1 HGNC ENSG00000168631 tier1 - - 88 0 0.00 73 5 6.41 DPP9 0 genome.wustl.edu 37 19 4703929 4703929 + Silent SNP G G A TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 19 4703929 4703929 G A SNP DPP9 ENST00000262960 human ensembl 74_37 -1 known silent c.738 p.G246 0.858 pfam_Peptidase_S9B pfam_Peptidase_S9B,pfam_Peptidase_S9,pfam_X-Pro-like_dom - no_errors DPP9 HGNC ENSG00000142002 tier1 - - 108 0 0.00 17 28 60.87 DPRX 0 genome.wustl.edu 37 19 54140176 54140176 + Missense_Mutation SNP A A C TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 19 54140176 54140176 A C SNP DPRX ENST00000376650 human ensembl 74_37 +1 known missense c.510 p.Q170H 0.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors DPRX HGNC ENSG00000204595 tier1 - - 30 0 0.00 10 27 72.97 DPY19L2 0 genome.wustl.edu 37 12 64062089 64062089 + Missense_Mutation SNP G G A TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 12 64062089 64062089 G A SNP DPY19L2 ENST00000324472 human ensembl 74_37 -1 known missense c.85 p.R29W 0.031 NULL pfam_Dpy-19 - no_errors DPY19L2 HGNC ENSG00000177990 82 0 0.00 62 4 6.06 DSEL 0 genome.wustl.edu 37 18 65179637 65179637 + Missense_Mutation SNP C C A TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 18 65179637 65179637 C A SNP DSEL ENST00000310045 human ensembl 74_37 -1 known missense c.2239 p.A747S 1.000 NULL pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,superfamily_Chondroitin_lyas - no_errors DSEL HGNC ENSG00000171451 tier1 - - 29 0 0.00 13 4 23.53 DST 0 genome.wustl.edu 37 6 56480682 56480682 + Missense_Mutation SNP C C T TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 6 56480682 56480682 C T SNP DST ENST00000370765 human ensembl 74_37 -1 known missense c.7583 p.G2528D 0.004 smart_Plectin_repeat pfam_Plectin_repeat,pfam_Spectrin_repeat,superfamily_Ig/albumin-bd,smart_Spectrin/alpha-actinin,smart_Plectin_repeat - no_errors DST HGNC ENSG00000151914 tier1 - - 42 0 0.00 50 4 7.41 DYNC2H1 0 genome.wustl.edu 37 11 103104821 103104821 + Nonsense_Mutation SNP G G T TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 11 103104821 103104821 G T SNP DYNC2H1 ENST00000398093 human ensembl 74_37 +1 known nonsense c.9499 p.E3167* 0.995 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DYNC2H1 HGNC ENSG00000187240 tier1 - - 68 0 0.00 58 5 7.94 EDNRB 0 genome.wustl.edu 37 13 78492294 78492294 + Missense_Mutation SNP A A C TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 13 78492294 78492294 A C SNP EDNRB ENST00000334286 human ensembl 74_37 -1 known missense c.415 p.L139V 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_ETB_rcpt,prints_Endthln_rcpt,prints_GPCR_Rhodpsn,prints_Bombsn_rcpt - no_errors EDNRB HGNC ENSG00000136160 tier1 rs143042375 - 93 0 0.00 54 24 30.77 EEF2K 0 genome.wustl.edu 37 16 22295238 22295238 + Missense_Mutation SNP C C T TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 16 22295238 22295238 C T SNP EEF2K ENST00000263026 human ensembl 74_37 +1 known missense c.2099 p.A700V 1.000 pirsf_Elongation_factor_2_kinase pfam_MHCK_EF2_kinase,pfam_Sel1-like,superfamily_Kinase-like_dom,smart_MHCK_EF2_kinase,pirsf_Elongation_factor_2_kinase,pfscan_MHCK_EF2_kinase - no_errors EEF2K HGNC ENSG00000103319 tier1 - - 82 0 0.00 69 4 5.48 EIF3H 0 genome.wustl.edu 37 8 117658786 117658786 + Silent SNP C C T TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 8 117658786 117658786 C T SNP EIF3H ENST00000521861 human ensembl 74_37 -1 known silent c.885 p.P295 0.030 NULL pfam_JAB_MPN_dom,smart_JAB_MPN_dom - no_errors EIF3H HGNC ENSG00000147677 tier1 - - 79 0 0.00 34 19 35.85 EMP3 0 genome.wustl.edu 37 19 48830165 48830165 + Missense_Mutation SNP G G T TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 19 48830165 48830165 G T SNP EMP3 ENST00000270221 human ensembl 74_37 +1 known missense c.64 p.A22S 1.000 pfam_PMP22/EMP/MP20/Claudin pfam_PMP22/EMP/MP20/Claudin,prints_EMP_3,prints_PMP22_EMP_MP20 - no_errors EMP3 HGNC ENSG00000142227 52 0 0.00 31 2 6.06 ENSG00000212030 0 genome.wustl.edu 37 11 76589350 76589350 + RNA SNP C C T TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 11 76589350 76589350 C T SNP ENSG00000212030 ENST00000390741 human ensembl 74_37 +1 novel rna NULL NULL 0.017 - - - no_errors AP002498.1 Clone_based_ensembl_gene ENSG00000212030 tier1 - - 41 0 0.00 43 11 20.37 ENSG00000214581 0 genome.wustl.edu 37 16 34682141 34682141 + RNA SNP T T C TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 16 34682141 34682141 T C SNP ENSG00000214581 ENST00000568619 human ensembl 74_37 -1 known rna NULL NULL 0.931 - - - no_errors RP11-80F22.10 Clone_based_vega_gene ENSG00000214581 tier1 - - 107 0 0.00 61 7 10.29 ENSG00000221136 0 genome.wustl.edu 37 4 176394154 176394154 + RNA SNP G G A TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 4 176394154 176394154 G A SNP ENSG00000221136 ENST00000408209 human ensembl 74_37 +1 novel rna NULL NULL 0.010 - - - no_errors AC131094.1 Clone_based_ensembl_gene ENSG00000221136 tier1 - - 72 0 0.00 38 6 13.64 ENSG00000225411 0 genome.wustl.edu 37 9 68400475 68400475 + RNA SNP T T G TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 9 68400475 68400475 T G SNP ENSG00000225411 ENST00000417843 human ensembl 74_37 -1 known rna NULL NULL 0.010 - - - no_errors RP11-764K9.1 Clone_based_vega_gene ENSG00000225411 tier1 rs75317582 - 27 0 0.00 27 9 25.00 ENSG00000233620 0 genome.wustl.edu 37 1 216246190 216246191 + RNA DEL TG TG - TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 TG TG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 1 216246190 216246191 TG - DEL ENSG00000233620 ENST00000445619 human ensembl 74_37 +1 known rna NULL NULL 0.001:0.002 - - - no_errors RP11-22M7.2 Clone_based_vega_gene ENSG00000233620 tier1 21 0 0.00 10 3 23.08 ENSG00000261711 0 genome.wustl.edu 37 16 34712338 34712338 + RNA SNP T T C TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 16 34712338 34712338 T C SNP ENSG00000261711 ENST00000569028 human ensembl 74_37 -1 known rna NULL NULL 0.050 - - - no_errors RP11-80F22.9 Clone_based_vega_gene ENSG00000261711 tier1 - - 54 0 0.00 30 11 26.83 EPB41L2 0 genome.wustl.edu 37 6 131229998 131229998 + Missense_Mutation SNP C C G TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 6 131229998 131229998 C G SNP EPB41L2 ENST00000337057 human ensembl 74_37 -1 known missense c.816 p.W272C 1.000 pirsf_Band_41_protein,pfam_FERM_N,smart_Band_41_domain,pfscan_FERM_domain pirsf_Band_41_protein,pfam_Band_4.1_C,pfam_SAB_dom,pfam_FERM_N,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,prints_Band_41_fam,prints_Ez/rad/moesin_like,pfscan_FERM_domain - no_errors EPB41L2 HGNC ENSG00000079819 tier1 - - 109 0 0.00 85 7 7.61 EPHA6 0 genome.wustl.edu 37 3 97185278 97185278 + Missense_Mutation SNP G G C TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 3 97185278 97185278 G C SNP EPHA6 ENST00000502694 human ensembl 74_37 +1 known missense c.22 p.V8L 0.000 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors EPHA6 HGNC ENSG00000080224 tier1 - - 40 0 0.00 22 5 18.52 EPN1 0 genome.wustl.edu 37 19 56206211 56206211 + Missense_Mutation SNP A A G TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 19 56206211 56206211 A G SNP EPN1 ENST00000411543 human ensembl 74_37 +1 known missense c.1642 p.T548A 0.345 NULL pfam_Epsin_dom_N,pfam_ANTH_dom,superfamily_ENTH_VHS,smart_Epsin-like_N,smart_Ubiquitin-int_motif,pfscan_Epsin-like_N,pfscan_Ubiquitin-int_motif - no_errors EPN1 HGNC ENSG00000063245 100 0 0.00 56 4 6.56 ERCC6L2 0 genome.wustl.edu 37 9 98678666 98678666 + Missense_Mutation SNP A A G TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 9 98678666 98678666 A G SNP ERCC6L2 ENST00000437817 human ensembl 74_37 +1 known missense c.574 p.R192G 0.999 pfam_SNF2_N,superfamily_P-loop_NTPase pfam_SNF2_N,pfam_Helicase_C,pfam_HDA_complex_subunit-2/3,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors ERCC6L2 HGNC ENSG00000182150 tier1 - - 84 0 0.00 65 4 5.80 ERP27 0 genome.wustl.edu 37 12 15068588 15068588 + Missense_Mutation SNP T T G TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 12 15068588 15068588 T G SNP ERP27 ENST00000266397 human ensembl 74_37 -1 known missense c.609 p.K203N 0.004 superfamily_Thioredoxin-like_fold superfamily_Thioredoxin-like_fold - no_errors ERP27 HGNC ENSG00000139055 tier1 - - 76 0 0.00 41 18 30.51 ETV3 0 genome.wustl.edu 37 1 157095505 157095505 + Missense_Mutation SNP G G T TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 1 157095505 157095505 G T SNP ETV3 ENST00000368192 human ensembl 74_37 -1 known missense c.667 p.Q223K 0.999 NULL pfam_Ets_dom,smart_Ets_dom,pfscan_Ets_dom,prints_Ets_dom - no_errors ETV3 HGNC ENSG00000117036 tier1 - - 53 0 0.00 56 4 6.67 EYA2 0 genome.wustl.edu 37 20 45771716 45771716 + Missense_Mutation SNP C C T TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 20 45771716 45771716 C T SNP EYA2 ENST00000327619 human ensembl 74_37 +1 known missense c.907 p.R303C 0.999 pfam_HAD-like_dom,tigrfam_EYA pfam_HAD-like_dom,superfamily_HAD-like_dom,tigrfam_EYA - no_errors EYA2 HGNC ENSG00000064655 31 0 0.00 49 3 5.77 EZH2 0 genome.wustl.edu 37 7 148524336 148524336 + Silent SNP C C A TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 7 148524336 148524336 C A SNP EZH2 ENST00000320356 human ensembl 74_37 -1 known silent c.648 p.R216 1.000 smart_SANT/Myb pfam_SET_dom,pfam_EZH2_WD-Binding,superfamily_Homeodomain-like,smart_SANT/Myb,smart_SET_dom,pfscan_SET_dom - no_errors EZH2 HGNC ENSG00000106462 tier1 - - 60 0 0.00 73 4 5.19 F2R 0 genome.wustl.edu 37 5 76028151 76028151 + Missense_Mutation SNP C C T TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 5 76028151 76028151 C T SNP F2R ENST00000319211 human ensembl 74_37 +1 known missense c.101 p.T34I 0.003 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Thrmbn_rcpt,prints_GPCR_Rhodpsn,prints_Protea_act_rcpt - no_errors F2R HGNC ENSG00000181104 tier1 - - 48 0 0.00 13 9 40.91 FAAH2 0 genome.wustl.edu 37 X 57313372 57313372 + Silent SNP A A G TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 X 57313372 57313372 A G SNP FAAH2 ENST00000374900 human ensembl 74_37 +1 known silent c.114 p.S38 0.033 superfamily_Amidase_dom pfam_Amidase,superfamily_Amidase_dom - no_errors FAAH2 HGNC ENSG00000165591 tier1 - - 48 0 0.00 43 5 10.42 FAM166B 0 genome.wustl.edu 37 9 35562544 35562544 + Missense_Mutation SNP C C T TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 9 35562544 35562544 C T SNP FAM166B ENST00000399742 human ensembl 74_37 -1 novel missense c.572 p.R191H 1.000 pfam_UPF0573/UPF0605 pfam_UPF0573/UPF0605 - no_errors FAM166B HGNC ENSG00000215187 73 0 0.00 41 4 8.89 FAM230A 0 genome.wustl.edu 37 22 20708880 20708880 + Silent SNP C C T TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 22 20708880 20708880 C T SNP FAM230A ENST00000434783 human ensembl 74_37 +1 known silent c.612 p.N204 0.733 superfamily_Kinase-like_dom pfam_Ret-finger_pr-like_3_antisense,superfamily_Kinase-like_dom - no_errors FAM230A HGNC ENSG00000188280 tier1 - - 94 0 0.00 41 17 29.31 FAM46A 0 genome.wustl.edu 37 6 82461324 82461324 + Missense_Mutation SNP T T C TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 6 82461324 82461324 T C SNP FAM46A ENST00000369754 human ensembl 74_37 -1 known missense c.592 p.T198A 1.000 pfam_DUF1693 pfam_DUF1693 - no_errors FAM46A HGNC ENSG00000112773 tier1 - - 44 0 0.00 24 4 14.29 FAM65B 0 genome.wustl.edu 37 6 24843687 24843687 + Nonsense_Mutation SNP G G T TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 6 24843687 24843687 G T SNP FAM65B ENST00000259698 human ensembl 74_37 -1 known nonsense c.1323 p.C441* 0.002 NULL superfamily_ARM-type_fold - no_errors FAM65B HGNC ENSG00000111913 tier1 - - 98 0 0.00 74 4 5.13 FGD5P1 0 genome.wustl.edu 37 3 13978095 13978095 + RNA SNP G G A TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 3 13978095 13978095 G A SNP FGD5P1 ENST00000502451 human ensembl 74_37 +1 known rna NULL NULL 0.691 - - - no_errors FGD5P1 HGNC ENSG00000250439 tier1 - - 25 0 0.00 23 4 14.81 FLI1 0 genome.wustl.edu 37 11 128680809 128680809 + Missense_Mutation SNP G G C TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 11 128680809 128680809 G C SNP FLI1 ENST00000527786 human ensembl 74_37 +1 known missense c.1285 p.G429R 0.946 NULL pfam_Ets_dom,pfam_Pointed_dom,superfamily_SAM/pointed,smart_Pointed_dom,smart_Ets_dom,pfscan_Ets_dom,prints_Ets_dom - no_errors FLI1 HGNC ENSG00000151702 37 0 0.00 25 3 10.71 FLJ36000 0 genome.wustl.edu 37 17 21911267 21911268 + RNA DEL TG TG - TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 TG TG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 17 21911267 21911268 TG 0 DEL FLJ36000 ENST00000581223 human ensembl 74_37 +1 known rna NULL NULL 0.024:0.043 - - - no_errors RP11-744K17.9 Clone_based_vega_gene ENSG00000266795 9 0 0.00 6 3 33.33 FMR1 0 genome.wustl.edu 37 X 147011714 147011714 + Missense_Mutation SNP C C G TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 X 147011714 147011714 C G SNP FMR1 ENST00000370475 human ensembl 74_37 +1 known missense c.581 p.T194S 1.000 NULL pfam_Frag_X_MRP_fam,pfam_KH_dom_type_1,pfam_Agenet-like_dom,smart_KH_dom,pfscan_KH_dom_type_1 - no_errors FMR1 HGNC ENSG00000102081 tier1 - - 30 0 0.00 31 4 11.43 FN1 0 genome.wustl.edu 37 2 216264040 216264040 + Silent SNP G G A TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 2 216264040 216264040 G A SNP FN1 ENST00000354785 human ensembl 74_37 -1 known silent c.3288 p.T1096 0.074 pfam_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Fibronectin_type1,pfam_FN_type2_col-bd,superfamily_Kringle-like,superfamily_Fibronectin_type3,smart_Fibronectin_type1,smart_FN_type2_col-bd,smart_Fibronectin_type3,pfscan_Fibronectin_type1,pfscan_FN_type2_col-bd,pfscan_Fibronectin_type3 - no_errors FN1 HGNC ENSG00000115414 tier1 - - 39 0 0.00 24 4 14.29 GABRP 0 genome.wustl.edu 37 5 170224476 170224476 + Silent SNP G G A TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 5 170224476 170224476 G A SNP GABRP ENST00000265294 human ensembl 74_37 +1 known silent c.465 p.T155 0.001 pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAAp_rcpt,prints_GABAA_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors GABRP HGNC ENSG00000094755 88 0 0.00 36 2 5.26 GBP1 0 genome.wustl.edu 37 1 89520498 89520498 + Missense_Mutation SNP C C G TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 1 89520498 89520498 C G SNP GBP1 ENST00000370473 human ensembl 74_37 -1 known missense c.1532 p.R511T 0.000 pfam_Guanylate-bd_C,superfamily_Guanylate-bd_C pfam_Guanylate-bd_C,pfam_Guanylate-bd_N,superfamily_Guanylate-bd_C,superfamily_P-loop_NTPase - no_errors GBP1 HGNC ENSG00000117228 tier1 - - 81 0 0.00 50 7 12.28 GDF6 0 genome.wustl.edu 37 8 97157145 97157145 + Silent SNP G G A TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 8 97157145 97157145 G A SNP GDF6 ENST00000287020 human ensembl 74_37 -1 known silent c.1014 p.F338 0.896 NULL pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C - no_errors GDF6 HGNC ENSG00000156466 tier1 - - 42 0 0.00 16 6 27.27 GFOD2 0 genome.wustl.edu 37 16 67719533 67719533 + Missense_Mutation SNP G G T TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 16 67719533 67719533 G T SNP GFOD2 ENST00000268797 human ensembl 74_37 -1 known missense c.86 p.T29N 0.940 pfam_Oxidoreductase_N pfam_Oxidoreductase_N - no_errors GFOD2 HGNC ENSG00000141098 tier1 - - 53 0 0.00 33 4 10.81 GFOD2 0 genome.wustl.edu 37 16 67709267 67709267 + Missense_Mutation SNP A A G TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 16 67709267 67709267 A G SNP GFOD2 ENST00000268797 human ensembl 74_37 -1 known missense c.949 p.S317P 1.000 NULL pfam_Oxidoreductase_N - no_errors GFOD2 HGNC ENSG00000141098 90 0 0.00 85 5 5.56 GLI1 0 genome.wustl.edu 37 12 57861915 57861915 + Missense_Mutation SNP G G A TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 12 57861915 57861915 G A SNP GLI1 ENST00000228682 human ensembl 74_37 +1 known missense c.1216 p.A406T 0.994 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors GLI1 HGNC ENSG00000111087 tier1 - - 33 0 0.00 25 4 13.79 GLYCTK 0 genome.wustl.edu 37 3 52327061 52327061 + Splice_Site SNP G G C TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 3 52327061 52327061 G C SNP GLYCTK ENST00000305690 human ensembl 74_37 +1 known splice_site c.1016-1 e5-1 0.041 - - - no_errors GLYCTK HGNC ENSG00000168237 tier1 - - 30 0 0.00 19 3 13.64 GOLGA8M 0 genome.wustl.edu 37 15 28953410 28953410 + Silent SNP G G T TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 15 28953410 28953410 G T SNP GOLGA8M ENST00000340249 human ensembl 74_37 -1 known silent c.15 p.V5 0.293 NULL NULL - no_errors GOLGA8M HGNC ENSG00000188626 tier1 - - 202 0 0.00 84 38 31.15 GPR126 0 genome.wustl.edu 37 6 142689023 142689023 + Missense_Mutation SNP G G T TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 6 142689023 142689023 G T SNP GPR126 ENST00000367609 human ensembl 74_37 +1 known missense c.421 p.G141C 1.000 pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pfam_GPCR_2_secretin-like,pfam_CUB_dom,pfam_GPS_dom,pfam_Pentaxin,superfamily_CUB_dom,superfamily_ConA-like_lec_gl_sf,smart_CUB_dom,smart_Pentaxin,smart_GPS_dom,pfscan_CUB_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like - no_errors GPR126 HGNC ENSG00000112414 16 0 0.00 18 3 14.29 GPR139 0 genome.wustl.edu 37 16 20084821 20084821 + Missense_Mutation SNP C C T TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 16 20084821 20084821 C T SNP GPR139 ENST00000570682 human ensembl 74_37 -1 known missense c.118 p.G40S 1.000 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srw,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors GPR139 HGNC ENSG00000180269 tier1 - - 138 0 0.00 45 36 44.44 GRIK3 0 genome.wustl.edu 37 1 37270590 37270591 + Frame_Shift_Ins INS - - CT TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 1 37270590 37270591 - CT INS GRIK3 ENST00000373091 human ensembl 74_37 -1 known frame_shift_ins c.2563_2562 p.Q854fs 1.000:1.000 NULL pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIK3 HGNC ENSG00000163873 tier1 35 0 0.00 20 6 23.08 GRIK4 0 genome.wustl.edu 37 11 120827629 120827629 + Missense_Mutation SNP G G A TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 11 120827629 120827629 G A SNP GRIK4 ENST00000527524 human ensembl 74_37 +1 known missense c.1841 p.R614H 0.980 pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,smart_Iontro_glu_rcpt pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIK4 HGNC ENSG00000149403 tier1 - - 94 0 0.00 43 15 25.86 GRN 0 genome.wustl.edu 37 17 42428797 42428797 + Missense_Mutation SNP C C T TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 17 42428797 42428797 C T SNP GRN ENST00000053867 human ensembl 74_37 +1 known missense c.902 p.S301L 0.024 pfam_Granulin,smart_Granulin pfam_Granulin,smart_Granulin - no_errors GRN HGNC ENSG00000030582 tier1 - - 67 0 0.00 44 6 12.00 GSTM5 0 genome.wustl.edu 37 1 110256361 110256361 + Missense_Mutation SNP G G A TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 1 110256361 110256361 G A SNP GSTM5 ENST00000369812 human ensembl 74_37 +1 known missense c.395 p.R132K 0.004 pfam_GST_C,superfamily_Glutathione-S-Trfase_C-like pfam_Glutathione_S-Trfase_N,pfam_GST_C,superfamily_Glutathione-S-Trfase_C-like,superfamily_Thioredoxin-like_fold,prints_GST_mu - no_errors GSTM5 HGNC ENSG00000134201 tier1 - - 76 0 0.00 45 6 11.76 HAP1 0 genome.wustl.edu 37 17 39884552 39884552 + Silent SNP C C T TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 17 39884552 39884552 C T SNP HAP1 ENST00000310778 human ensembl 74_37 -1 known silent c.1101 p.S367 0.002 pfam_HAP1_N pfam_HAP1_N - no_errors HAP1 HGNC ENSG00000173805 tier1 - - 74 0 0.00 84 19 18.45 HAPLN3 0 genome.wustl.edu 37 15 89422500 89422500 + Missense_Mutation SNP C C A TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 15 89422500 89422500 C A SNP HAPLN3 ENST00000359595 human ensembl 74_37 -1 known missense c.494 p.G165V 1.000 pfam_Link,smart_Link pfam_Link,pfam_Ig_V-set,superfamily_C-type_lectin_fold,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Link,pfscan_Link,pfscan_Ig-like_dom,prints_Link - no_errors HAPLN3 HGNC ENSG00000140511 tier1 - - 122 0 0.00 25 37 59.68 HERC2P8 0 genome.wustl.edu 37 16 33123821 33123821 + RNA SNP A A G TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 16 33123821 33123821 A G SNP HERC2P8 ENST00000567073 human ensembl 74_37 -1 known rna NULL NULL 0.978 - - - no_errors HERC2P8 HGNC ENSG00000261599 tier1 - - 384 0 0.00 205 36 14.94 HHAT 0 genome.wustl.edu 37 1 210796984 210796984 + Missense_Mutation SNP A A G TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 1 210796984 210796984 A G SNP HHAT ENST00000391905 human ensembl 74_37 +1 known missense c.1360 p.K454E 0.977 NULL pfam_MBOAT_fam - no_errors HHAT HGNC ENSG00000054392 tier1 - - 109 0 0.00 97 21 17.80 HN1L 0 genome.wustl.edu 37 16 1748984 1748984 + Silent SNP C C T TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 16 1748984 1748984 C T SNP HN1L ENST00000248098 human ensembl 74_37 +1 known silent c.558 p.S186 1.000 NULL NULL - no_errors HN1L HGNC ENSG00000206053 tier1 - - 121 0 0.00 56 4 6.67 HNRNPM 0 genome.wustl.edu 37 19 8551084 8551084 + Missense_Mutation SNP G G C TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 19 8551084 8551084 G C SNP HNRNPM ENST00000325495 human ensembl 74_37 +1 known missense c.1772 p.R591P 1.000 NULL pfam_RRM_dom,pfam_HnRNP_M_PY-NLS,smart_RRM_dom,pfscan_RRM_dom - no_errors HNRNPM HGNC ENSG00000099783 tier1 - - 62 0 0.00 33 5 13.16 HRNR 0 genome.wustl.edu 37 1 152191913 152191913 + Missense_Mutation SNP G G A TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 1 152191913 152191913 G A SNP HRNR ENST00000368801 human ensembl 74_37 -1 known missense c.2192 p.S731F 0.000 NULL pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom - no_errors HRNR HGNC ENSG00000197915 tier1 - - 131 0 0.00 91 20 18.02 HS1BP3 0 genome.wustl.edu 37 2 20824580 20824580 + Missense_Mutation SNP G G T TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 2 20824580 20824580 G T SNP HS1BP3 ENST00000304031 human ensembl 74_37 -1 known missense c.696 p.D232E 0.914 NULL pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox - no_errors HS1BP3 HGNC ENSG00000118960 tier1 - - 77 0 0.00 52 5 8.77 HS3ST3A1 0 genome.wustl.edu 37 17 13503953 13503953 + Missense_Mutation SNP G G A TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 17 13503953 13503953 G A SNP HS3ST3A1 ENST00000284110 human ensembl 74_37 -1 known missense c.494 p.T165M 1.000 pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase - no_errors HS3ST3A1 HGNC ENSG00000153976 42 0 0.00 20 4 16.67 HSPH1 0 genome.wustl.edu 37 13 31725825 31725825 + Missense_Mutation SNP G G T TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 13 31725825 31725825 G T SNP HSPH1 ENST00000445273 human ensembl 74_37 -1 known missense c.590 p.P197H 1.000 pfam_Hsp_70_fam,pfam_MreB_Mrl pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam - no_errors HSPH1 HGNC ENSG00000120694 46 0 0.00 33 3 8.33 IFT140 0 genome.wustl.edu 37 16 1570179 1570179 + Missense_Mutation SNP C C A TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 16 1570179 1570179 C A SNP IFT140 ENST00000426508 human ensembl 74_37 -1 known missense c.3826 p.G1276W 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors IFT140 HGNC ENSG00000187535 tier1 - - 53 0 0.00 33 5 13.16 IGFN1 0 genome.wustl.edu 37 1 201181077 201181077 + Silent SNP A A G TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 1 201181077 201181077 A G SNP IGFN1 ENST00000335211 human ensembl 74_37 +1 known silent c.7056 p.P2352 0.001 NULL pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors IGFN1 HGNC ENSG00000163395 tier1 - - 87 0 0.00 52 18 25.71 IL17RC 0 genome.wustl.edu 37 3 9975157 9975157 + Silent SNP G G A TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 3 9975157 9975157 G A SNP IL17RC ENST00000295981 human ensembl 74_37 +1 known silent c.2256 p.A752 0.000 NULL pfam_SEFIR - no_errors IL17RC HGNC ENSG00000163702 tier1 - - 20 0 0.00 8 4 33.33 IL1RAPL1 0 genome.wustl.edu 37 X 29938112 29938112 + Missense_Mutation SNP A A C TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 X 29938112 29938112 A C SNP IL1RAPL1 ENST00000302196 human ensembl 74_37 +1 known missense c.958 p.I320L 1.000 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_TIR_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_TIR_dom,smart_Ig_sub,smart_Ig_sub2,smart_TIR_dom,pfscan_TIR_dom,pfscan_Ig-like_dom - no_errors IL1RAPL1 HGNC ENSG00000169306 tier1 - - 56 0 0.00 15 28 65.12 INHBC 0 genome.wustl.edu 37 12 57843760 57843760 + Missense_Mutation SNP G G T TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 12 57843760 57843760 G T SNP INHBC ENST00000309668 human ensembl 74_37 +1 known missense c.1014 p.K338N 1.000 pfam_TGF-b_C,smart_TGF-b_C pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C,prints_Inhibin_betaC - no_errors INHBC HGNC ENSG00000175189 40 0 0.00 27 2 6.90 IPO8 0 genome.wustl.edu 37 12 30789961 30789961 + Missense_Mutation SNP G G A TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 12 30789961 30789961 G A SNP IPO8 ENST00000256079 human ensembl 74_37 -1 known missense c.2650 p.R884W 0.873 superfamily_ARM-type_fold pfam_Importin-beta_N,pfam_Cse1,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N - no_errors IPO8 HGNC ENSG00000133704 tier1 - - 30 0 0.00 29 4 12.12 ITGAL 0 genome.wustl.edu 37 16 30522438 30522438 + Missense_Mutation SNP A A T TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 16 30522438 30522438 A T SNP ITGAL ENST00000356798 human ensembl 74_37 +1 known missense c.2767 p.I923F 0.774 pfam_Integrin_alpha-2 pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,smart_VWF_A,prints_Integrin_alpha,pfscan_VWF_A - no_errors ITGAL HGNC ENSG00000005844 tier1 - - 79 0 0.00 51 4 7.27 KCNH8 0 genome.wustl.edu 37 3 19295323 19295323 + Missense_Mutation SNP A A C TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 3 19295323 19295323 A C SNP KCNH8 ENST00000328405 human ensembl 74_37 +1 known missense c.254 p.K85T 1.000 pfam_PAS_fold_3,pfam_PAS_4,pfam_PAS_fold,superfamily_PAS,tigrfam_PAS pfam_Ion_trans_dom,pfam_cNMP-bd_dom,pfam_2pore_dom_K_chnl_dom,pfam_PAS_fold_3,pfam_PAS_4,pfam_PAS_fold,superfamily_cNMP-bd-like,superfamily_PAS,superfamily_tRNA-bd_arm,smart_PAC,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom,pfscan_PAS-assoc_C,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ELK,prints_K_chnl_volt-dep_ERG,prints_K_chnl_volt-dep_EAG,tigrfam_PAS - no_errors KCNH8 HGNC ENSG00000183960 tier1 - - 43 0 0.00 19 9 32.14 KCNJ8 0 genome.wustl.edu 37 12 21919003 21919003 + Missense_Mutation SNP C C G TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 12 21919003 21919003 C G SNP KCNJ8 ENST00000240662 human ensembl 74_37 -1 known missense c.929 p.R310P 0.997 pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir6.1 - no_errors KCNJ8 HGNC ENSG00000121361 tier1 - - 50 0 0.00 35 4 10.26 KCNN1 0 genome.wustl.edu 37 19 18099331 18099331 + Missense_Mutation SNP G G T TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 19 18099331 18099331 G T SNP KCNN1 ENST00000222249 human ensembl 74_37 +1 known missense c.1167 p.K389N 1.000 pfam_CaM-bd_dom,superfamily_CaM-bd_dom pfam_K_chnl_Ca-activ_SK,pfam_CaM-bd_dom,pfam_2pore_dom_K_chnl_dom,superfamily_CaM-bd_dom,prints_K_chnl_Ca-activ_SK - no_errors KCNN1 HGNC ENSG00000105642 tier1 - - 57 0 0.00 51 4 7.27 KCNT2 0 genome.wustl.edu 37 1 196459008 196459008 + Missense_Mutation SNP T T A TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 1 196459008 196459008 T A SNP KCNT2 ENST00000294725 human ensembl 74_37 -1 known missense c.235 p.I79F 1.000 NULL pfam_K_chnl_Ca-activ_BK_asu,pfam_2pore_dom_K_chnl_dom - no_errors KCNT2 HGNC ENSG00000162687 tier1 - - 45 0 0.00 32 41 56.16 KIAA0319 0 genome.wustl.edu 37 6 24570135 24570135 + Missense_Mutation SNP C C T TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 6 24570135 24570135 C T SNP KIAA0319 ENST00000378214 human ensembl 74_37 -1 known missense c.1987 p.V663I 0.143 pfam_PKD/REJ-like,superfamily_PKD_dom,smart_Fibronectin_type3,smart_PKD/Chitinase_dom pfam_PKD/REJ-like,superfamily_PKD_dom,smart_MANSC_N,smart_Fibronectin_type3,smart_PKD/Chitinase_dom,pfscan_MANSC,pfscan_PKD_dom - no_errors KIAA0319 HGNC ENSG00000137261 tier1 - - 57 0 0.00 29 17 36.96 KIF1B 0 genome.wustl.edu 37 1 10356961 10356961 + Missense_Mutation SNP G G A TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 1 10356961 10356961 G A SNP KIF1B ENST00000263934 human ensembl 74_37 +1 known missense c.1730 p.R577H 1.000 pfam_FHA_dom,superfamily_SMAD_FHA_domain pfam_Kinesin_motor_dom,pfam_Kinesin-like,pfam_Pleckstrin_homology,pfam_KIF1B,pfam_FHA_dom,superfamily_P-loop_NTPase,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,smart_FHA_dom,smart_Pleckstrin_homology,pfscan_FHA_dom,pfscan_Pleckstrin_homology,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF1B HGNC ENSG00000054523 40 0 0.00 28 2 6.67 KIF23 0 genome.wustl.edu 37 15 69732685 69732685 + Silent SNP T T C TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 15 69732685 69732685 T C SNP KIF23 ENST00000260363 human ensembl 74_37 +1 known silent c.1926 p.N642 1.000 NULL pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF23 HGNC ENSG00000137807 22 0 0.00 18 2 10.00 KIF6 0 genome.wustl.edu 37 6 39693059 39693059 + Missense_Mutation SNP C C T TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 6 39693059 39693059 C T SNP KIF6 ENST00000287152 human ensembl 74_37 -1 known missense c.28 p.A10T 1.000 superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF6 HGNC ENSG00000164627 tier1 - - 57 0 0.00 36 7 16.28 KIT 0 genome.wustl.edu 37 4 55594207 55594207 + Missense_Mutation SNP T T C TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 4 55594207 55594207 T C SNP KIT ENST00000288135 human ensembl 74_37 +1 known missense c.1910 p.L637P 1.000 pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors KIT HGNC ENSG00000157404 tier1 - - 60 0 0.00 37 4 9.76 KLHL34 0 genome.wustl.edu 37 X 21674920 21674922 + In_Frame_Del DEL CTC CTC - TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 CTC CTC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 X 21674920 21674922 CTC 0 DEL KLHL34 ENST00000379499 human ensembl 74_37 -1 known in_frame_del c.987_985 p.E329in_frame_del 0.870:0.875:0.865 smart_Kelch_1,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL34 HGNC ENSG00000185915 12 0 0.00 4 2 33.33 KRTAP2-3 0 genome.wustl.edu 37 17 39216158 39216158 + Missense_Mutation SNP G G A TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 17 39216158 39216158 G A SNP KRTAP2-3 ENST00000391418 human ensembl 74_37 -1 known missense c.145 p.R49C 0.997 pfam_Keratin-assoc pfam_Keratin-assoc - no_errors KRTAP2-3 HGNC ENSG00000212724 tier1 - - 62 0 0.00 36 9 20.00 LARS 0 genome.wustl.edu 37 5 145508678 145508678 + Missense_Mutation SNP C C G TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 5 145508678 145508678 C G SNP LARS ENST00000394434 human ensembl 74_37 -1 known missense c.2632 p.D878H 0.041 pfam_V/L/I-tRNA-synth_anticodon-bd,superfamily_tRNAsynth_1a_anticodon-bd,tigrfam_Leu-tRNA-synth_Ia_arc/euk pfam_aa-tRNA-synth_Ia,pfam_Methionyl/Leucyl_tRNA_Synth,pfam_V/L/I-tRNA-synth_anticodon-bd,pfam_Cys-tRNA/MSH_ligase,superfamily_tRNAsynth_1a_anticodon-bd,superfamily_Val/Leu/Ile-tRNA-synth_edit,tigrfam_Leu-tRNA-synth_Ia_arc/euk - no_errors LARS HGNC ENSG00000133706 109 0 0.00 48 3 5.88 LINC00577 0 genome.wustl.edu 37 6 105388266 105388266 + RNA SNP A A G TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 6 105388266 105388266 A G SNP LINC00577 ENST00000369123 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors LINC00577 HGNC ENSG00000203809 tier1 - - 35 0 0.00 27 4 12.90 LINC00937 0 genome.wustl.edu 37 12 8543176 8543176 + RNA SNP G G T TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 12 8543176 8543176 G T SNP LINC00937 ENST00000420040 human ensembl 74_37 -1 known rna NULL NULL 0.992 - - - no_errors LINC00937 HGNC ENSG00000226091 14 0 0.00 5 4 44.44 LINC01010 0 genome.wustl.edu 37 6 134758988 134758988 + RNA SNP A A G TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 6 134758988 134758988 A G SNP LINC01010 ENST00000431422 human ensembl 74_37 +1 known rna NULL NULL 0.002 - - - no_errors LINC01010 HGNC ENSG00000236700 tier1 - - 52 0 0.00 39 12 23.53 LMBR1L 0 genome.wustl.edu 37 12 49504487 49504488 + RNA INS - - A TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 12 49504487 49504488 - A INS LMBR1L ENST00000548983 human ensembl 74_37 -1 known rna NULL NULL 0.000:0.001 - - - no_errors LMBR1L HGNC ENSG00000139636 tier1 26 0 0.00 8 5 38.46 LMOD1 0 genome.wustl.edu 37 1 201869875 201869875 + Missense_Mutation SNP C C T TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 1 201869875 201869875 C T SNP LMOD1 ENST00000367288 human ensembl 74_37 -1 known missense c.266 p.S89N 1.000 NULL pfam_Tropomodulin,pfam_WH2_dom,smart_WH2_dom,pfscan_WH2_dom - no_errors LMOD1 HGNC ENSG00000163431 tier1 - - 51 0 0.00 50 4 7.41 LOC100128164 0 genome.wustl.edu 37 3 169663070 169663070 + RNA SNP A A G TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 3 169663070 169663070 A G SNP LOC100128164 ENST00000483289 human ensembl 74_37 -1 known rna NULL NULL 0.047 - - - no_errors RP11-379K17.4 Clone_based_vega_gene ENSG00000239219 tier1 - - 25 0 0.00 14 5 26.32 LOC100508046 0 genome.wustl.edu 37 14 20010412 20010412 + RNA SNP G G A TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 14 20010412 20010412 G A SNP LOC100508046 ENST00000547584 human ensembl 74_37 +1 known rna NULL NULL 0.046 - - - no_errors RP11-244H18.1 Clone_based_vega_gene ENSG00000258276 tier1 rs200791687 - 25 0 0.00 13 6 31.58 LOC100508046 0 genome.wustl.edu 37 14 20010484 20010484 + RNA SNP A A G TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 14 20010484 20010484 A G SNP LOC100508046 ENST00000547584 human ensembl 74_37 +1 known rna NULL NULL 0.325 - - - no_errors RP11-244H18.1 Clone_based_vega_gene ENSG00000258276 tier1 rs201730464 - 17 0 0.00 7 5 41.67 LOC101927343 0 genome.wustl.edu 37 8 104178455 104178455 + RNA SNP T T G TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 8 104178455 104178455 T G SNP LOC101927343 ENST00000499522 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-318M2.2 Clone_based_vega_gene ENSG00000247081 tier1 - - 84 0 0.00 33 19 36.54 LPA 0 genome.wustl.edu 37 6 161007564 161007564 + Missense_Mutation SNP G G A TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 6 161007564 161007564 G A SNP LPA ENST00000316300 human ensembl 74_37 -1 known missense c.4046 p.T1349M 0.337 pfam_Kringle,superfamily_Kringle-like,smart_Kringle,pfscan_Kringle pfam_Kringle,pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,superfamily_Kringle-like,smart_Kringle,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_Kringle,pfscan_Peptidase_S1 - no_errors LPA HGNC ENSG00000198670 tier1 rs201200716 - 90 0 0.00 49 29 37.18 LRCH1 0 genome.wustl.edu 37 13 47263314 47263314 + Nonsense_Mutation SNP C C T TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 13 47263314 47263314 C T SNP LRCH1 ENST00000389798 human ensembl 74_37 +1 known nonsense c.997 p.R333* 1.000 NULL pfam_Leu-rich_rpt,pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_Leu-rich_rpt_typical-subtyp,smart_CH-domain,pfscan_CH-domain - no_errors LRCH1 HGNC ENSG00000136141 tier1 - - 84 0 0.00 53 4 7.02 LRRC28 0 genome.wustl.edu 37 15 99892671 99892671 + Silent SNP C C T TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 15 99892671 99892671 C T SNP LRRC28 ENST00000301981 human ensembl 74_37 +1 known silent c.690 p.C230 1.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC28 HGNC ENSG00000168904 tier1 rs144217679 - 61 0 0.00 53 4 7.02 LRRK1 0 genome.wustl.edu 37 15 101608956 101608956 + Missense_Mutation SNP C C T TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 15 101608956 101608956 C T SNP LRRK1 ENST00000388948 human ensembl 74_37 +1 known missense c.5951 p.A1984V 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Leu-rich_rpt,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Small_GTPase,superfamily_Kinase-like_dom,superfamily_P-loop_NTPase,superfamily_Ankyrin_rpt-contain_dom,superfamily_WD40_repeat_dom,smart_Ankyrin_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Ankyrin_rpt-contain_dom,pfscan_Prot_kinase_dom - no_errors LRRK1 HGNC ENSG00000154237 tier1 - - 61 0 0.00 37 4 9.76 LRTM1 0 genome.wustl.edu 37 3 54958682 54958682 + Missense_Mutation SNP C C T TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 3 54958682 54958682 C T SNP LRTM1 ENST00000273286 human ensembl 74_37 -1 known missense c.568 p.G190S 0.943 smart_Cys-rich_flank_reg_C pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors LRTM1 HGNC ENSG00000144771 tier1 - - 44 0 0.00 12 12 50.00 MAGEB5 0 genome.wustl.edu 37 X 26235705 26235705 + Missense_Mutation SNP A A C TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 X 26235705 26235705 A C SNP MAGEB5 ENST00000379029 human ensembl 74_37 +1 known missense c.287 p.D96A 0.000 pfam_MAGE,pfscan_MAGE pfam_MAGE,pfscan_MAGE - no_errors MAGEB5 HGNC ENSG00000188408 tier1 - - 25 0 0.00 1 5 83.33 MAML3 0 genome.wustl.edu 37 4 140811081 140811081 + Silent SNP C C T TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 4 140811081 140811081 C T SNP MAML3 ENST00000509479 human ensembl 74_37 -1 known silent c.1509 p.Q503 1.000 NULL pfam_Neuroggenic_mastermind-like_N - no_errors MAML3 HGNC ENSG00000196782 63 0 0.00 29 3 9.38 MAP3K4 0 genome.wustl.edu 37 6 161470619 161470619 + Nonsense_Mutation SNP G G T TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 6 161470619 161470619 G T SNP MAP3K4 ENST00000392142 human ensembl 74_37 +1 known nonsense c.1315 p.E439* 0.945 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors MAP3K4 HGNC ENSG00000085511 50 0 0.00 44 3 6.38 MAP7D1 0 genome.wustl.edu 37 1 36639028 36639028 + Missense_Mutation SNP C C T TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 1 36639028 36639028 C T SNP MAP7D1 ENST00000373151 human ensembl 74_37 +1 known missense c.688 p.R230C 1.000 NULL pfam_MAP7 - no_errors MAP7D1 HGNC ENSG00000116871 tier1 rs201457297 - 97 0 0.00 42 13 23.64 MAPKBP1 0 genome.wustl.edu 37 15 42116219 42116219 + Missense_Mutation SNP G G T TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 15 42116219 42116219 G T SNP MAPKBP1 ENST00000456763 human ensembl 74_37 +1 known missense c.4191 p.M1397I 0.998 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors MAPKBP1 HGNC ENSG00000137802 tier1 - - 84 0 0.00 50 4 7.41 MBL1P 0 genome.wustl.edu 37 10 81664758 81664758 + RNA SNP G G A TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 10 81664758 81664758 G A SNP MBL1P ENST00000453174 human ensembl 74_37 +1 known rna NULL NULL 0.261 - - - no_errors MBL1P HGNC ENSG00000242600 tier1 - - 56 0 0.00 20 10 33.33 MDC1 0 genome.wustl.edu 37 6 30680055 30680055 + Missense_Mutation SNP G G A TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 6 30680055 30680055 G A SNP MDC1 ENST00000376406 human ensembl 74_37 -1 known missense c.1664 p.A555V 0.002 NULL pfam_FHA_dom,superfamily_BRCT_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_BRCT_dom,pfscan_FHA_dom - no_errors MDC1 HGNC ENSG00000137337 tier1 - - 32 0 0.00 29 9 23.68 MED13 0 genome.wustl.edu 37 17 60061649 60061649 + Missense_Mutation SNP G G C TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 17 60061649 60061649 G C SNP MED13 ENST00000397786 human ensembl 74_37 -1 known missense c.2771 p.P924R 1.000 NULL pfam_Mediator_Med13,pfam_Mediator_Med13_N_met/fun - no_errors MED13 HGNC ENSG00000108510 80 0 0.00 66 4 5.56 MEP1A 0 genome.wustl.edu 37 6 46766383 46766383 + Missense_Mutation SNP G G T TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 6 46766383 46766383 G T SNP MEP1A ENST00000230588 human ensembl 74_37 +1 known missense c.186 p.Q62H 0.235 pirsf_Pept_M12A_Meprin pirsf_Pept_M12A_Meprin,pfam_Peptidase_M12A,pfam_MATH,pfam_MAM_dom,pfam_EG-like_dom,superfamily_TRAF-like,superfamily_ConA-like_lec_gl_sf,smart_Peptidase_Metallo,smart_MAM_dom,smart_MATH,prints_Peptidase_M12A,prints_MAM_dom,pfscan_EG-like_dom,pfscan_MATH,pfscan_MAM_dom - no_errors MEP1A HGNC ENSG00000112818 tier1 - - 42 0 0.00 52 4 7.14 MKS1 0 genome.wustl.edu 37 17 56283514 56283514 + Missense_Mutation SNP G G A TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 17 56283514 56283514 G A SNP MKS1 ENST00000393119 human ensembl 74_37 -1 known missense c.1606 p.R536W 1.000 NULL pfam_B9_dom - no_errors MKS1 HGNC ENSG00000011143 73 0 0.00 45 3 6.25 MMP25 0 genome.wustl.edu 37 16 3100009 3100009 + Splice_Site SNP G G T TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 16 3100009 3100009 G T SNP MMP25 ENST00000336577 human ensembl 74_37 +1 known splice_site c.233-1 e3-1 1.000 - - - no_errors MMP25 HGNC ENSG00000008516 95 0 0.00 51 4 7.27 MST1L 0 genome.wustl.edu 37 1 17083605 17083605 + RNA SNP A A G TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 1 17083605 17083605 A G SNP MST1L ENST00000455405 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors MST1L HGNC ENSG00000186715 tier1 - - 81 0 0.00 20 8 28.57 MTTP 0 genome.wustl.edu 37 4 100534196 100534196 + Missense_Mutation SNP T T C TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 4 100534196 100534196 T C SNP MTTP ENST00000265517 human ensembl 74_37 +1 known missense c.2116 p.F706L 0.999 NULL pfam_Lipid_transpt_N,superfamily_Vitellinogen_superhlx,superfamily_Lipid_transp_b-sht_shell,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N - no_errors MTTP HGNC ENSG00000138823 tier1 - - 68 0 0.00 46 5 9.80 MUM1 0 genome.wustl.edu 37 19 1370705 1370705 + Missense_Mutation SNP G G C TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 19 1370705 1370705 G C SNP MUM1 ENST00000344663 human ensembl 74_37 +1 known missense c.1617 p.K539N 0.000 NULL pfam_PWWP_dom - no_errors MUM1 HGNC ENSG00000160953 tier1 - - 83 0 0.00 61 4 6.15 MUT 0 genome.wustl.edu 37 6 49425613 49425613 + Missense_Mutation SNP T T A TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 6 49425613 49425613 T A SNP MUT ENST00000274813 human ensembl 74_37 -1 known missense c.544 p.M182L 1.000 pfam_MeMalonylCoA_mutase_a/b_cat,superfamily_Cbl-dep_enz_cat,tigrfam_MMCoA_mutase_a_cat pfam_MeMalonylCoA_mutase_a/b_cat,pfam_Cobalamin-bd,superfamily_Cbl-dep_enz_cat,superfamily_Cobalamin-bd,tigrfam_MMCoA_mutase_a_cat,tigrfam_Acid_CoA_mut_C - no_errors MUT HGNC ENSG00000146085 34 0 0.00 37 3 7.50 MYCT1 0 genome.wustl.edu 37 6 153042973 153042973 + Missense_Mutation SNP G G A TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 6 153042973 153042973 G A SNP MYCT1 ENST00000367245 human ensembl 74_37 +1 known missense c.293 p.R98K 1.000 NULL NULL - no_errors MYCT1 HGNC ENSG00000120279 tier1 - - 46 0 0.00 29 6 17.14 N6AMT2 0 genome.wustl.edu 37 13 21306195 21306195 + Nonsense_Mutation SNP G G T TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 13 21306195 21306195 G T SNP N6AMT2 ENST00000382754 human ensembl 74_37 -1 known nonsense c.293 p.S98* 0.040 pfam_N6_adenine_Mtase-rel_euk pfam_N6_adenine_Mtase-rel_euk - no_errors N6AMT2 HGNC ENSG00000150456 49 0 0.00 27 2 6.90 NCKAP1 0 genome.wustl.edu 37 2 183843562 183843562 + Missense_Mutation SNP C C T TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 2 183843562 183843562 C T SNP NCKAP1 ENST00000360982 human ensembl 74_37 -1 known missense c.1441 p.V481I 1.000 pfam_Nck-associated_protein-1 pfam_Nck-associated_protein-1 - no_errors NCKAP1 HGNC ENSG00000061676 tier1 - - 58 0 0.00 61 6 8.96 NCOA2 0 genome.wustl.edu 37 8 71053566 71053566 + Missense_Mutation SNP C C G TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 8 71053566 71053566 C G SNP NCOA2 ENST00000452400 human ensembl 74_37 -1 known missense c.2881 p.V961L 1.000 pirsf_Nuclear_rcpt_coactivator pfam_DUF1518,pfam_SRC-1,pfam_Nuc_rcpt_coact_Ncoa-typ,pfam_PAS_fold,superfamily_PAS,superfamily_Nuc_rcpt_coact,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,pirsf_Nuclear_rcpt_coactivator,pfscan_PAS,pfscan_bHLH_dom - no_errors NCOA2 HGNC ENSG00000140396 tier1 - - 45 0 0.00 28 25 47.17 NDE1 0 genome.wustl.edu 37 16 15758647 15758647 + Silent SNP C C T TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 16 15758647 15758647 C T SNP NDE1 ENST00000396353 human ensembl 74_37 +1 known silent c.12 p.S4 0.237 NULL pfam_NUDE_C - no_errors NDE1 HGNC ENSG00000072864 tier1 - - 35 0 0.00 16 9 36.00 NEB 0 genome.wustl.edu 37 2 152521956 152521956 + Missense_Mutation SNP A A C TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 2 152521956 152521956 A C SNP NEB ENST00000397345 human ensembl 74_37 -1 known missense c.5129 p.I1710S 1.000 smart_Nebulin_35r-motif,pfscan_Nebulin_35r-motif pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Adhesion_dom,superfamily_6-PGluconate_DH_C-like,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_Nebulin - no_errors NEB HGNC ENSG00000183091 tier1 - - 81 0 0.00 44 32 42.11 NECAP1 0 genome.wustl.edu 37 12 8248680 8248680 + Missense_Mutation SNP G G T TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 12 8248680 8248680 G T SNP NECAP1 ENST00000339754 human ensembl 74_37 +1 known missense c.822 p.Q274H 1.000 NULL pfam_NECAP-1 - no_errors NECAP1 HGNC ENSG00000089818 tier1 - - 56 0 0.00 23 4 14.81 NFIC 0 genome.wustl.edu 37 19 3381984 3381984 + Missense_Mutation SNP C C T TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 19 3381984 3381984 C T SNP NFIC ENST00000443272 human ensembl 74_37 +1 known missense c.305 p.P102L 0.998 pfam_MAD_homology1_Dwarfin-type,superfamily_MAD_homology_MH1,smart_MAD_homology1_Dwarfin-type,pfscan_CTF/NFI_DNA-bd-dom pfam_CTF/NFI,pfam_CTF/NFI_DNA-bd_N,pfam_MAD_homology1_Dwarfin-type,superfamily_MAD_homology_MH1,smart_MAD_homology1_Dwarfin-type,pfscan_CTF/NFI_DNA-bd-dom - no_errors NFIC HGNC ENSG00000141905 tier1 - - 96 0 0.00 31 35 53.03 NLGN4Y 0 genome.wustl.edu 37 Y 16953045 16953045 + Missense_Mutation SNP C C A TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 Y 16953045 16953045 C A SNP NLGN4Y ENST00000382868 human ensembl 74_37 +1 known missense c.2525 p.T842K 1.000 NULL pfam_CarbesteraseB,prints_Neuroligin - no_errors NLGN4Y HGNC ENSG00000165246 tier1 - - 61 0 0.00 13 3 18.75 NOX4 0 genome.wustl.edu 37 11 89075351 89075351 + Missense_Mutation SNP C C T TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 11 89075351 89075351 C T SNP NOX4 ENST00000413594 human ensembl 74_37 -1 known missense c.1291 p.D431N 1.000 pfam_FAD-bd_8,superfamily_Riboflavin_synthase-like_b-brl,prints_Cyt_b245_heavy_chain pfam_Fe_red_NAD-bd_6,pfam_Fe3_Rdtase_TM_dom,pfam_FAD-bd_8,superfamily_Riboflavin_synthase-like_b-brl,prints_Cyt_b245_heavy_chain - no_errors NOX4 HGNC ENSG00000086991 tier1 - - 86 0 0.00 59 7 10.61 NPC1L1 0 genome.wustl.edu 37 7 44555474 44555474 + Missense_Mutation SNP G G T TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 7 44555474 44555474 G T SNP NPC1L1 ENST00000289547 human ensembl 74_37 -1 known missense c.3805 p.L1269I 1.000 pfam_Patched pfam_Patched,pfscan_SSD - no_errors NPC1L1 HGNC ENSG00000015520 tier1 - - 36 0 0.00 47 4 7.84 NPEPL1 0 genome.wustl.edu 37 20 57282220 57282220 + Silent SNP G G A TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 20 57282220 57282220 G A SNP NPEPL1 ENST00000356091 human ensembl 74_37 +1 known silent c.864 p.A288 0.914 pfam_Peptidase_M17_C,prints_Leucine_aapep/pepB pfam_Peptidase_M17_C,prints_Leucine_aapep/pepB - no_errors NPEPL1 HGNC ENSG00000215440 tier1 - - 185 0 0.00 181 42 18.83 NSUN5P1 0 genome.wustl.edu 37 7 75045369 75045369 + RNA SNP C C T TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 7 75045369 75045369 C T SNP NSUN5P1 ENST00000393633 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors NSUN5P1 HGNC ENSG00000223705 83 0 0.00 51 3 5.56 NUP98 0 genome.wustl.edu 37 11 3720357 3720357 + Missense_Mutation SNP T T C TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 11 3720357 3720357 T C SNP NUP98 ENST00000324932 human ensembl 74_37 -1 known missense c.3964 p.T1322A 1.000 pfam_Nup96 pfam_Nup96,pfam_Peptidase_S59,superfamily_Peptidase_S59 - no_errors NUP98 HGNC ENSG00000110713 tier1 - - 67 0 0.00 37 20 35.09 NVL 0 genome.wustl.edu 37 1 224514159 224514160 + Frame_Shift_Ins INS - - TA TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 1 224514159 224514160 - TA INS NVL ENST00000281701 human ensembl 74_37 -1 known frame_shift_ins c.65_64 p.T22fs 0.935:0.900 NULL pfam_ATPase_AAA_core,pfam_DNA_helicase_Holl-junc_RuvB_N,pfam_ATPase_AAA-2,pfam_ATPase_dyneun-rel_AAA,pfam_Zeta_toxin_domain,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors NVL HGNC ENSG00000143748 tier1 55 0 0.00 67 9 11.84 NXPE1 0 genome.wustl.edu 37 11 114392979 114392979 + Missense_Mutation SNP C C T TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 11 114392979 114392979 C T SNP NXPE1 ENST00000424269 human ensembl 74_37 -1 known missense c.1355 p.R452H 0.955 NULL pfam_NXPH/NXPE,superfamily_Ig_E-set - no_errors NXPE1 HGNC ENSG00000095110 69 0 0.00 47 3 6.00 OGFOD3 0 genome.wustl.edu 37 17 80373480 80373480 + Missense_Mutation SNP C C T TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 17 80373480 80373480 C T SNP OGFOD3 ENST00000329197 human ensembl 74_37 -1 known missense c.98 p.R33Q 0.001 NULL smart_Pro_4_hyd_alph - no_errors OGFOD3 HGNC ENSG00000181396 106 0 0.00 76 4 5.00 OR10Q1 0 genome.wustl.edu 37 11 57996159 57996159 + Missense_Mutation SNP C C T TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 11 57996159 57996159 C T SNP OR10Q1 ENST00000316770 human ensembl 74_37 -1 known missense c.189 p.M63I 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10Q1 HGNC ENSG00000180475 34 0 0.00 18 4 18.18 OR4C3 0 genome.wustl.edu 37 11 48346874 48346874 + Nonsense_Mutation SNP G G T TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 11 48346874 48346874 G T SNP OR4C3 ENST00000319856 human ensembl 74_37 +1 known nonsense c.382 p.G128* 0.927 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4C3 HGNC ENSG00000176547 tier1 - - 108 0 0.00 65 17 20.73 OR51E1 0 genome.wustl.edu 37 11 4673819 4673819 + Silent SNP T T A TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 11 4673819 4673819 T A SNP OR51E1 ENST00000396952 human ensembl 74_37 +1 known silent c.63 p.P21 0.996 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR51E1 HGNC ENSG00000180785 tier1 - - 59 0 0.00 46 8 14.81 OR5AS1 0 genome.wustl.edu 37 11 55798703 55798703 + Missense_Mutation SNP C C G TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 11 55798703 55798703 C G SNP OR5AS1 ENST00000313555 human ensembl 74_37 +1 known missense c.809 p.T270S 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5AS1 HGNC ENSG00000181785 57 0 0.00 33 2 5.71 OR5T1 0 genome.wustl.edu 37 11 56043714 56043714 + Silent SNP T T C TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 11 56043714 56043714 T C SNP OR5T1 ENST00000313033 human ensembl 74_37 +1 known silent c.600 p.S200 0.004 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5T1 HGNC ENSG00000181698 tier1 - - 70 0 0.00 31 12 27.91 ORC4 0 genome.wustl.edu 37 2 148731063 148731063 + Missense_Mutation SNP G G T TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 2 148731063 148731063 G T SNP ORC4 ENST00000264169 human ensembl 74_37 -1 known missense c.88 p.R30S 1.000 superfamily_P-loop_NTPase,pirsf_ORC4 pfam_ATPase_AAA_core,pfam_ATPase_dom_prok,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pirsf_ORC4 - no_errors ORC4 HGNC ENSG00000115947 67 0 0.00 44 3 6.38 OTUB1 0 genome.wustl.edu 37 11 63764925 63764925 + Silent SNP C C T TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 11 63764925 63764925 C T SNP OTUB1 ENST00000422031 human ensembl 74_37 +1 known silent c.834 p.G278 0.998 pfam_Peptidase_C65_otubain,pfam_OTU,pirsf_Ubiquitin_thioesterase_Otubain,pfscan_OTU pfam_Peptidase_C65_otubain,pfam_OTU,pirsf_Ubiquitin_thioesterase_Otubain,pfscan_OTU - no_errors OTUB1 HGNC ENSG00000167770 tier1 - - 40 0 0.00 21 4 16.00 PAH 0 genome.wustl.edu 37 12 103245493 103245493 + Missense_Mutation SNP G G A TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 12 103245493 103245493 G A SNP PAH ENST00000553106 human ensembl 74_37 -1 known missense c.884 p.S295L 1.000 pfam_Aromatic-AA_hydroxylase_C,superfamily_Aromatic-AA_hydroxylase_C,pirsf_Tyrosine_3-monooxygenase-like,tigrfam_Phe-4-hydroxylase_tetra pfam_Aromatic-AA_hydroxylase_C,pfam_ACT_dom,superfamily_Aromatic-AA_hydroxylase_C,pirsf_Tyrosine_3-monooxygenase-like,prints_Aromatic-AA_hydroxylase_C,tigrfam_Phe-4-hydroxylase_tetra - no_errors PAH HGNC ENSG00000171759 59 0 0.00 37 2 5.13 PAN3 0 genome.wustl.edu 37 13 28712978 28712979 + Frame_Shift_Del DEL GA GA - TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 GA GA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 13 28712978 28712979 GA - DEL PAN3 ENST00000380958 human ensembl 74_37 +1 known frame_shift_del c.184_185 p.E62fs 1.000:1.000 smart_Znf_CCCH superfamily_Kinase-like_dom,smart_Znf_CCCH,pfscan_Prot_kinase_dom - no_errors PAN3 HGNC ENSG00000152520 tier1 81 0 0.00 34 18 34.62 PBX2P1 0 genome.wustl.edu 37 3 142896901 142896901 + RNA SNP G G T TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 3 142896901 142896901 G T SNP PBX2P1 ENST00000560287 human ensembl 74_37 +1 known rna NULL NULL 0.991 - - - no_errors PBX2P1 HGNC ENSG00000244171 tier1 - - 122 0 0.00 45 17 27.42 PCDH17 0 genome.wustl.edu 37 13 58208354 58208354 + Silent SNP G G A TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 13 58208354 58208354 G A SNP PCDH17 ENST00000377918 human ensembl 74_37 +1 known silent c.1674 p.G558 0.991 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH17 HGNC ENSG00000118946 tier1 - - 40 0 0.00 9 6 40.00 PCDHA12 0 genome.wustl.edu 37 5 140255418 140255418 + Missense_Mutation SNP G G A TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 5 140255418 140255418 G A SNP PCDHA12 ENST00000398631 human ensembl 74_37 +1 known missense c.361 p.V121M 1.000 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA12 HGNC ENSG00000251664 tier1 - - 133 0 0.00 73 7 8.75 PEG3 0 genome.wustl.edu 37 19 57335020 57335020 + Missense_Mutation SNP T T A TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 19 57335020 57335020 T A SNP PEG3 ENST00000326441 human ensembl 74_37 -1 known missense c.422 p.D141V 0.211 smart_Tscrpt_reg_SCAN pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors PEG3 HGNC ENSG00000198300 tier1 - - 71 0 0.00 14 26 65.00 PFN4 0 genome.wustl.edu 37 2 24342500 24342500 + Missense_Mutation SNP G G T TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 2 24342500 24342500 G T SNP PFN4 ENST00000313213 human ensembl 74_37 -1 known missense c.308 p.T103N 0.996 pfam_Profilin_eukaryotes/bac,superfamily_Profilin_eukaryotes/bac,smart_Profilin_eukaryotes/bac,prints_Profilin_eukaryotes/bac pfam_Profilin_eukaryotes/bac,superfamily_Profilin_eukaryotes/bac,smart_Profilin_eukaryotes/bac,prints_Profilin_eukaryotes/bac - no_errors PFN4 HGNC ENSG00000176732 tier1 - - 65 0 0.00 26 21 44.68 PHYHIPL 0 genome.wustl.edu 37 10 61005214 61005214 + Missense_Mutation SNP G G T TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 10 61005214 61005214 G T SNP PHYHIPL ENST00000373880 human ensembl 74_37 +1 known missense c.994 p.V332F 1.000 NULL pfam_Fibronectin_type3,superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors PHYHIPL HGNC ENSG00000165443 tier1 - - 24 0 0.00 21 5 19.23 PIGZ 0 genome.wustl.edu 37 3 196675122 196675122 + Missense_Mutation SNP G G T TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 3 196675122 196675122 G T SNP PIGZ ENST00000412723 human ensembl 74_37 -1 known missense c.646 p.L216I 0.989 pfam_GPI_mannosylTrfase pfam_GPI_mannosylTrfase - no_errors PIGZ HGNC ENSG00000119227 65 0 0.00 29 2 6.45 PIK3CA 0 genome.wustl.edu 37 3 178916924 178916924 + Missense_Mutation SNP C C T TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 3 178916924 178916924 C T SNP PIK3CA ENST00000263967 human ensembl 74_37 +1 known missense c.311 p.P104L 1.000 pfam_PI3K_adapt-bd_dom,smart_PI3K_adapt-bd_dom pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CA HGNC ENSG00000121879 45 0 0.00 32 2 5.88 PKHD1L1 0 genome.wustl.edu 37 8 110477200 110477200 + Silent SNP T T C TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 8 110477200 110477200 T C SNP PKHD1L1 ENST00000378402 human ensembl 74_37 +1 known silent c.8139 p.L2713 0.997 NULL pfam_IPT,pfam_G8_domain,pfam_PA14,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,superfamily_Cupredoxin,smart_IPT,smart_PA14,smart_PbH1 - no_errors PKHD1L1 HGNC ENSG00000205038 70 0 0.00 46 4 8.00 PLIN2 0 genome.wustl.edu 37 9 19123637 19123637 + Missense_Mutation SNP C C T TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 9 19123637 19123637 C T SNP PLIN2 ENST00000276914 human ensembl 74_37 -1 known missense c.235 p.A79T 1.000 pfam_Perilipin,pirsf_Perilipin pfam_Perilipin,pirsf_Perilipin - no_errors PLIN2 HGNC ENSG00000147872 51 0 0.00 46 4 8.00 PMS2 0 genome.wustl.edu 37 7 6026831 6026831 + Missense_Mutation SNP C C T TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 7 6026831 6026831 C T SNP PMS2 ENST00000265849 human ensembl 74_37 -1 known missense c.1565 p.S522N 0.174 NULL pfam_MutL_C,pfam_DNA_mismatch_repair_C,pfam_HATPase_ATP-bd,superfamily_HATPase_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,smart_MutL_C,tigrfam_DNA_mismatch_repair_N - no_errors PMS2 HGNC ENSG00000122512 79 0 0.00 62 4 6.06 PPP4R4 0 genome.wustl.edu 37 14 94725670 94725671 + Frame_Shift_Del DEL AG AG - TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 AG AG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 14 94725670 94725671 AG - DEL PPP4R4 ENST00000304338 human ensembl 74_37 +1 known frame_shift_del c.2091_2092 p.K699fs 1.000:1.000 NULL superfamily_ARM-type_fold,pfscan_HEAT_type_2 - no_errors PPP4R4 HGNC ENSG00000119698 tier1 48 0 0.00 36 2 5.26 PRDM8 0 genome.wustl.edu 37 4 81123235 81123235 + Missense_Mutation SNP G G A TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 4 81123235 81123235 G A SNP PRDM8 ENST00000339711 human ensembl 74_37 +1 known missense c.619 p.G207S 0.876 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors PRDM8 HGNC ENSG00000152784 tier1 - - 81 0 0.00 34 18 34.62 PREX2 0 genome.wustl.edu 37 8 68968135 68968135 + Missense_Mutation SNP G G A TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 8 68968135 68968135 G A SNP PREX2 ENST00000288368 human ensembl 74_37 +1 known missense c.1164 p.M388I 1.000 NULL pfam_DH-domain,pfam_DEP_dom,pfam_PDZ,superfamily_DH-domain,superfamily_PDZ,smart_DH-domain,smart_Pleckstrin_homology,smart_DEP_dom,smart_PDZ,pfscan_DEP_dom,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PREX2 HGNC ENSG00000046889 tier1 - - 58 0 0.00 57 14 19.72 PREX2 0 genome.wustl.edu 37 8 69017554 69017554 + RNA SNP T T A TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 8 69017554 69017554 T A SNP PREX2 ENST00000529398 human ensembl 74_37 +1 known rna NULL NULL 0.011 - - - no_errors PREX2 HGNC ENSG00000046889 tier1 - - 36 0 0.00 48 10 17.24 PRMT1 0 genome.wustl.edu 37 19 50180545 50180545 + Missense_Mutation SNP C C T TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 19 50180545 50180545 C T SNP PRMT1 ENST00000454376 human ensembl 74_37 +1 known missense c.8 p.A3V 1.000 NULL pfam_Ribosomal-L11_MeTrfase_PrmA,pfam_Arg_MeTrfase,pfam_Methyltransf_11,pfam_Small_mtfrase_dom,pfam_tRNA_Trfase_Trm5/Tyw2 - no_errors PRMT1 HGNC ENSG00000126457 tier1 - - 205 0 0.00 187 11 5.53 PRNP 0 genome.wustl.edu 37 20 4680395 4680395 + Missense_Mutation SNP C C T TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 20 4680395 4680395 C T SNP PRNP ENST00000379440 human ensembl 74_37 +1 known missense c.529 p.H177Y 0.995 pfam_Prion/Doppel_prot_b-ribbon_dom,superfamily_Prion/Doppel_prot_b-ribbon_dom,smart_Prion pfam_Prion/Doppel_prot_b-ribbon_dom,pfam_Prion_N_dom,superfamily_Prion/Doppel_prot_b-ribbon_dom,smart_Prion,prints_Prion - no_errors PRNP HGNC ENSG00000171867 tier1 - - 54 0 0.00 42 4 8.70 PRPF8 0 genome.wustl.edu 37 17 1586912 1586912 + Missense_Mutation SNP G G A TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 17 1586912 1586912 G A SNP PRPF8 ENST00000304992 human ensembl 74_37 -1 known missense c.184 p.P62S 1.000 pfam_PRO8NT pfam_PROCN,pfam_PRP8_domainIV,pfam_Prp8_U6-snRNA-bd,pfam_PRO8NT,pfam_Prp8_U5-snRNA-bd,pfam_PROCT,pfam_RRM_spliceosomal_PrP8,pfam_JAB_MPN_dom,superfamily_Cupredoxin,superfamily_Histone-fold,smart_JAB_MPN_dom - no_errors PRPF8 HGNC ENSG00000174231 tier1 - - 90 0 0.00 52 4 7.14 PRR3 0 genome.wustl.edu 37 6 30531428 30531428 + RNA DEL T T - TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 6 30531428 30531428 T - DEL PRR3 ENST00000481741 human ensembl 74_37 +1 known rna NULL NULL 0.005 - - - no_errors PRR3 HGNC ENSG00000204576 tier1 34 0 0.00 26 5 16.13 PRRC2C 0 genome.wustl.edu 37 1 171492410 171492410 + Missense_Mutation SNP G G A TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 1 171492410 171492410 G A SNP PRRC2C ENST00000392078 human ensembl 74_37 +1 known missense c.884 p.R295H 1.000 NULL pfam_BAT2_N - no_errors PRRC2C HGNC ENSG00000117523 tier1 - - 49 0 0.00 37 9 19.57 PSORS1C1 0 genome.wustl.edu 37 6 31106527 31106527 + Silent SNP T T C TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 6 31106527 31106527 T C SNP PSORS1C1 ENST00000259881 human ensembl 74_37 +1 known silent c.138 p.L46 0.000 NULL NULL - no_errors PSORS1C1 HGNC ENSG00000204540 tier1 - - 79 0 0.00 54 4 6.90 PTPN4 0 genome.wustl.edu 37 2 120714494 120714494 + Nonsense_Mutation SNP C C G TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 2 120714494 120714494 C G SNP PTPN4 ENST00000263708 human ensembl 74_37 +1 known nonsense c.2055 p.Y685* 1.000 pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,pirsf_Tyr_Pase_non-rcpt_typ-3/4,pfscan_Tyr_Pase_rcpt/non-rcpt pfam_Tyr_Pase_rcpt/non-rcpt,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM_N,pfam_PDZ,pfam_FERM-adjacent,superfamily_FERM_central,superfamily_PDZ,smart_Band_41_domain,smart_PDZ,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Tyr_Pase_non-rcpt_typ-3/4,pfscan_FERM_domain,pfscan_PDZ,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt,prints_Band_41_fam,prints_Ez/rad/moesin_like - no_errors PTPN4 HGNC ENSG00000088179 tier1 - - 131 0 0.00 95 5 5.00 PUM1 0 genome.wustl.edu 37 1 31438993 31438993 + Missense_Mutation SNP G G A TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 1 31438993 31438993 G A SNP PUM1 ENST00000426105 human ensembl 74_37 -1 known missense c.1922 p.A641V 1.000 NULL pfam_Pumilio_RNA-bd_rpt,superfamily_ARM-type_fold,smart_Pumilio_RNA-bd_rpt,pfscan_Pumilio_RNA-bd_rpt - no_errors PUM1 HGNC ENSG00000134644 tier1 - - 122 0 0.00 65 19 22.62 RALA 0 genome.wustl.edu 37 7 39730055 39730055 + Missense_Mutation SNP G G T TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 7 39730055 39730055 G T SNP RALA ENST00000005257 human ensembl 74_37 +1 known missense c.189 p.Q63H 1.000 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RALA HGNC ENSG00000006451 51 0 0.00 51 3 5.56 RBM6 0 genome.wustl.edu 37 3 50004793 50004794 + RNA INS - - A TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 3 50004793 50004794 - A INS RBM6 ENST00000488807 human ensembl 74_37 +1 putative rna NULL NULL 1.000:1.000 - - - no_errors RBM6 HGNC ENSG00000004534 tier1 17 0 0.00 9 3 25.00 RDX 0 genome.wustl.edu 37 11 110143263 110143263 + Missense_Mutation SNP G G T TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 11 110143263 110143263 G T SNP RDX ENST00000530749 human ensembl 74_37 -1 known missense c.94 p.Q32K 1.000 pirsf_ERM,pfam_FERM_N,smart_Band_41_domain,prints_Ez/rad/moesin_like,pfscan_FERM_domain pirsf_ERM,pfam_ERM_C_dom,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM_N,superfamily_FERM_central,superfamily_Moesin_tail,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Band_41_domain,prints_Ez/rad/moesin_like,prints_Band_41_fam,pfscan_FERM_domain - no_errors RDX HGNC ENSG00000137710 tier1 - - 45 0 0.00 36 4 10.00 RECQL 0 genome.wustl.edu 37 12 21636458 21636458 + Missense_Mutation SNP T T G TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 12 21636458 21636458 T G SNP RECQL ENST00000421138 human ensembl 74_37 -1 known missense c.552 p.L184F 0.995 pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd,tigrfam_DNA_helicase_ATP-dep_RecQ pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_RQC_domain,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,tigrfam_DNA_helicase_ATP-dep_RecQ - no_errors RECQL HGNC ENSG00000004700 tier1 - - 78 0 0.00 53 8 13.11 REV3L 0 genome.wustl.edu 37 6 111688631 111688631 + Silent SNP A A G TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 6 111688631 111688631 A G SNP REV3L ENST00000358835 human ensembl 74_37 -1 known silent c.6360 p.P2120 0.997 superfamily_RNaseH-like_dom pfam_DNA-dir_DNA_pol_B_multi_dom,pfam_DNA-dir_DNA_pol_B_exonuc,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B,prints_DNA-dir_DNA_pol_B - no_errors REV3L HGNC ENSG00000009413 tier1 - - 84 0 0.00 51 4 7.14 RFXAP 0 genome.wustl.edu 37 13 37401814 37401814 + Missense_Mutation SNP T T C TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 13 37401814 37401814 T C SNP RFXAP ENST00000255476 human ensembl 74_37 +1 known missense c.743 p.L248S 1.000 NULL NULL - no_errors RFXAP HGNC ENSG00000133111 tier1 - - 141 0 0.00 66 39 37.14 RIMBP2 0 genome.wustl.edu 37 12 130926745 130926745 + Silent SNP G G T TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 12 130926745 130926745 G T SNP RIMBP2 ENST00000261655 human ensembl 74_37 -1 known silent c.1101 p.S367 0.854 superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,superfamily_Fibronectin_type3,smart_SH3_domain,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_SH3_domain,prints_SH3_domain - no_errors RIMBP2 HGNC ENSG00000060709 37 0 0.00 26 2 7.14 RMDN2 0 genome.wustl.edu 37 2 38216731 38216731 + Missense_Mutation SNP A A C TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 2 38216731 38216731 A C SNP RMDN2 ENST00000234195 human ensembl 74_37 +1 known missense c.1373 p.N458T 1.000 NULL NULL - no_errors RMDN2 HGNC ENSG00000115841 tier1 - - 99 0 0.00 99 11 10.00 RNF169 0 genome.wustl.edu 37 11 74500713 74500713 + Missense_Mutation SNP A A G TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 11 74500713 74500713 A G SNP RNF169 ENST00000299563 human ensembl 74_37 +1 known missense c.545 p.E182G 1.000 NULL smart_Znf_RING,pfscan_Znf_RING - no_errors RNF169 HGNC ENSG00000166439 tier1 - - 46 0 0.00 30 16 34.78 RNPC3 0 genome.wustl.edu 37 1 104076467 104076467 + Frame_Shift_Del DEL A A - TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 1 104076467 104076467 A - DEL RNPC3 ENST00000423855 human ensembl 74_37 +1 known frame_shift_del c.347 p.K119fs 0.784 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors RNPC3 HGNC ENSG00000185946 tier1 35 0 0.00 19 4 17.39 RPAP1 0 genome.wustl.edu 37 15 41829284 41829284 + Missense_Mutation SNP G G T TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 15 41829284 41829284 G T SNP RPAP1 ENST00000304330 human ensembl 74_37 -1 known missense c.40 p.L14M 1.000 NULL pfam_RNA_pol_II_AP1_C,pfam_RNA_pol_II_AP1_N,superfamily_ARM-type_fold - no_errors RPAP1 HGNC ENSG00000103932 tier1 - - 24 0 0.00 13 3 18.75 RPS6KA1 0 genome.wustl.edu 37 1 26898372 26898372 + Silent SNP C C T TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 1 26898372 26898372 C T SNP RPS6KA1 ENST00000531382 human ensembl 74_37 +1 known silent c.1812 p.C604 0.948 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Ribosomal_S6_kinase_II,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Ribosomal_S6_kinase_II,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors RPS6KA1 HGNC ENSG00000117676 37 0 0.00 27 2 6.67 RSRC1 0 genome.wustl.edu 37 3 158261202 158261202 + Nonsense_Mutation SNP G G T TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 3 158261202 158261202 G T SNP RSRC1 ENST00000295930 human ensembl 74_37 +1 known nonsense c.838 p.E280* 0.944 NULL NULL - no_errors RSRC1 HGNC ENSG00000174891 tier1 - - 49 0 0.00 30 4 11.76 SCN11A 0 genome.wustl.edu 37 3 38888876 38888876 + Missense_Mutation SNP C C T TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 3 38888876 38888876 C T SNP SCN11A ENST00000302328 human ensembl 74_37 -1 known missense c.4685 p.R1562Q 0.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_Na_trans_assoc,prints_Na_channel_asu - no_errors SCN11A HGNC ENSG00000168356 40 0 0.00 32 2 5.88 SCUBE1 0 genome.wustl.edu 37 22 43619183 43619183 + Missense_Mutation SNP C C A TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 22 43619183 43619183 C A SNP SCUBE1 ENST00000360835 human ensembl 74_37 -1 known missense c.1247 p.R416L 0.002 NULL pfam_EGF-like_Ca-bd_dom,pfam_Tyr-kin_ephrin_A/B_rcpt-like,pfam_EG-like_dom,pfam_CUB_dom,superfamily_CUB_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_CUB_dom,pfscan_CUB_dom,pfscan_EG-like_dom - no_errors SCUBE1 HGNC ENSG00000159307 tier1 - - 75 0 0.00 38 18 32.14 SCYL3 0 genome.wustl.edu 37 1 169823906 169823907 + Frame_Shift_Ins INS - - GA TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 1 169823906 169823907 - GA INS SCYL3 ENST00000367770 human ensembl 74_37 -1 known frame_shift_ins c.1674_1673 p.Q559fs 0.004:0.312 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_HEAT_type_2,pfscan_Prot_kinase_dom - no_errors SCYL3 HGNC ENSG00000000457 tier1 56 0 0.00 54 8 12.90 SEMA4D 0 genome.wustl.edu 37 9 92002317 92002317 + Silent SNP G G A TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 9 92002317 92002317 G A SNP SEMA4D ENST00000356444 human ensembl 74_37 -1 known silent c.1314 p.V438 0.999 pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom pfam_Semap_dom,pfam_Plexin_repeat,pfam_Immunoglobulin,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_Ig_sub,smart_Ig_sub2,pfscan_Semap_dom,pfscan_Ig-like_dom - no_errors SEMA4D HGNC ENSG00000187764 67 0 0.00 44 3 6.38 SENP3 0 genome.wustl.edu 37 17 7475198 7475198 + RNA SNP T T A TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 17 7475198 7475198 T A SNP SENP3 ENST00000578813 human ensembl 74_37 +1 known rna NULL NULL 0.939 - - - no_errors SENP3 HGNC ENSG00000161956 tier1 - - 37 0 0.00 14 5 26.32 SEPT1 0 genome.wustl.edu 37 16 30392561 30392561 + Missense_Mutation SNP G G A TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 16 30392561 30392561 G A SNP SEPT1 ENST00000321367 human ensembl 74_37 -1 known missense c.586 p.R196W 1.000 pfam_Cell_div_GTP-bd,superfamily_P-loop_NTPase,pirsf_Septin pfam_Cell_div_GTP-bd,pfam_Ribosome_biogen_GTPase_RsgA,superfamily_P-loop_NTPase,pirsf_Septin - no_errors SEPT1 HGNC ENSG00000180096 tier1 - - 180 0 0.00 78 17 17.89 SEPT1 0 genome.wustl.edu 37 16 30393468 30393470 + In_Frame_Del DEL TGA TGA - TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 TGA TGA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 16 30393468 30393470 TGA - DEL SEPT1 ENST00000321367 human ensembl 74_37 -1 known in_frame_del c.268_266 p.I89in_frame_del 1.000:1.000:1.000 pfam_Cell_div_GTP-bd,pfam_Ribosome_biogen_GTPase_RsgA,superfamily_P-loop_NTPase,pirsf_Septin pfam_Cell_div_GTP-bd,pfam_Ribosome_biogen_GTPase_RsgA,superfamily_P-loop_NTPase,pirsf_Septin - no_errors SEPT1 HGNC ENSG00000180096 tier1 57 0 0.00 36 7 16.28 SETD8 0 genome.wustl.edu 37 12 123875311 123875311 + Missense_Mutation SNP C C T TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 12 123875311 123875311 C T SNP SETD8 ENST00000437519 human ensembl 74_37 +1 known missense c.145 p.R49W 0.079 NULL NULL - no_errors SETD8 HGNC ENSG00000183955 tier1 rs74356260 - 73 0 0.00 51 4 7.27 SIPA1L2 0 genome.wustl.edu 37 1 232581352 232581352 + Silent SNP G G A TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 1 232581352 232581352 G A SNP SIPA1L2 ENST00000262861 human ensembl 74_37 -1 known silent c.3276 p.C1092 1.000 NULL pfam_DUF3401,pfam_Rap_GAP_dom,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP_dom - no_errors SIPA1L2 HGNC ENSG00000116991 74 0 0.00 70 4 5.41 SLA 0 genome.wustl.edu 37 8 134052331 134052331 + Missense_Mutation SNP T T C TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 8 134052331 134052331 T C SNP SLA ENST00000427060 human ensembl 74_37 -1 known missense c.649 p.T217A 1.000 NULL pfam_SH2,pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,pfscan_SH2,pfscan_SH3_domain,prints_SH2 - no_errors SLA HGNC ENSG00000155926 tier1 - - 72 0 0.00 55 4 6.78 SLC12A5 0 genome.wustl.edu 37 20 44663608 44663608 + Missense_Mutation SNP G G T TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 20 44663608 44663608 G T SNP SLC12A5 ENST00000454036 human ensembl 74_37 +1 known missense c.143 p.S48I 1.000 prints_KCL_cotranspt,tigrfam_Na/K/Cl_cotransptS pfam_AA-permease/SLC12A_dom,prints_KCL_cotranspt,tigrfam_Na/K/Cl_cotransptS - no_errors SLC12A5 HGNC ENSG00000124140 tier1 - - 73 0 0.00 61 7 10.29 SLC12A6 0 genome.wustl.edu 37 15 34529714 34529714 + Missense_Mutation SNP G G T TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 15 34529714 34529714 G T SNP SLC12A6 ENST00000558589 human ensembl 74_37 -1 known missense c.2813 p.A938D 1.000 tigrfam_Na/K/Cl_cotransptS pfam_AA-permease/SLC12A_dom,pfam_K/Cl_cotranspt_1/3,prints_KCL_cotranspt,tigrfam_Na/K/Cl_cotransptS - no_errors SLC12A6 HGNC ENSG00000140199 tier1 - - 96 0 0.00 59 4 6.35 SLC13A1 0 genome.wustl.edu 37 7 122787321 122787321 + Missense_Mutation SNP A A T TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 7 122787321 122787321 A T SNP SLC13A1 ENST00000194130 human ensembl 74_37 -1 known missense c.704 p.V235E 1.000 pfam_Na/sul_symport pfam_Na/sul_symport,pfam_Cit_transptr-like_dom - no_errors SLC13A1 HGNC ENSG00000081800 tier1 - - 54 0 0.00 43 4 8.51 SLC13A4 0 genome.wustl.edu 37 7 135376332 135376332 + Missense_Mutation SNP G G C TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 7 135376332 135376332 G C SNP SLC13A4 ENST00000354042 human ensembl 74_37 -1 known missense c.1282 p.P428A 1.000 pfam_Na/sul_symport pfam_Na/sul_symport,pfam_Cit_transptr-like_dom,pfam_DctM - no_errors SLC13A4 HGNC ENSG00000164707 tier1 - - 56 0 0.00 51 4 7.27 SLC22A2 0 genome.wustl.edu 37 6 160668305 160668306 + Frame_Shift_Ins INS - - C TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 6 160668305 160668306 0 C INS SLC22A2 ENST00000366953 human ensembl 74_37 -1 known frame_shift_ins c.868_867 p.L289fs 1.000:1.000 pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp - no_errors SLC22A2 HGNC ENSG00000112499 85 0 0.00 79 7 8.14 SLC25A10 0 genome.wustl.edu 37 17 79682740 79682740 + Missense_Mutation SNP G G A TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 17 79682740 79682740 G A SNP SLC25A10 ENST00000541223 human ensembl 74_37 +1 known missense c.811 p.V271M 0.970 pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier pfam_Mitochondrial_sb/sol_carrier,pfam_Ribosomal_L7/L12_C,superfamily_Mt_carrier_dom,superfamily_Ribosomal_L7/L12_oligo,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_uncoupling - no_errors SLC25A10 HGNC ENSG00000183048 tier1 - - 31 0 0.00 10 3 23.08 SLC25A23 0 genome.wustl.edu 37 19 6456040 6456040 + Frame_Shift_Del DEL T T - TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 19 6456040 6456040 T - DEL SLC25A23 ENST00000264088 human ensembl 74_37 -1 known frame_shift_del c.547 p.T183fs 0.003 NULL pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,smart_EF_hand_dom,pfscan_EF_hand_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier - no_errors SLC25A23 HGNC ENSG00000125648 tier1 32 0 0.00 19 2 9.52 SLC30A10 0 genome.wustl.edu 37 1 220091782 220091782 + Missense_Mutation SNP G G A TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 1 220091782 220091782 G A SNP SLC30A10 ENST00000366926 human ensembl 74_37 -1 known missense c.773 p.T258M 0.996 pfam_Cation_efflux,tigrfam_Cation_efflux pfam_Cation_efflux,tigrfam_Cation_efflux - no_errors SLC30A10 HGNC ENSG00000196660 31 0 0.00 33 2 5.71 SLC44A2 0 genome.wustl.edu 37 19 10747424 10747424 + Missense_Mutation SNP G G A TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 19 10747424 10747424 G A SNP SLC44A2 ENST00000335757 human ensembl 74_37 +1 known missense c.1583 p.R528Q 1.000 pfam_Choline_transptr-like pfam_Choline_transptr-like - no_errors SLC44A2 HGNC ENSG00000129353 36 0 0.00 37 3 7.50 SLC5A6 0 genome.wustl.edu 37 2 27427384 27427384 + Missense_Mutation SNP G G T TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 2 27427384 27427384 G T SNP SLC5A6 ENST00000310574 human ensembl 74_37 -1 known missense c.950 p.A317E 0.588 pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr - no_errors SLC5A6 HGNC ENSG00000138074 38 0 0.00 43 3 6.52 SLC6A19 0 genome.wustl.edu 37 5 1219077 1219077 + Silent SNP G G A TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 5 1219077 1219077 G A SNP SLC6A19 ENST00000304460 human ensembl 74_37 +1 known silent c.1233 p.P411 0.000 pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_orphan - no_errors SLC6A19 HGNC ENSG00000174358 tier1 - - 36 0 0.00 38 4 9.30 SLCO3A1 0 genome.wustl.edu 37 15 92647683 92647683 + Missense_Mutation SNP G G A TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 15 92647683 92647683 G A SNP SLCO3A1 ENST00000318445 human ensembl 74_37 +1 known missense c.920 p.R307K 0.987 pfam_OA_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter pfam_OA_transporter,pfam_MFS,pfam_Kazal_dom,superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter - no_errors SLCO3A1 HGNC ENSG00000176463 64 0 0.00 27 3 10.00 SNAP91 0 genome.wustl.edu 37 6 84366506 84366506 + Missense_Mutation SNP C C A TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 6 84366506 84366506 C A SNP SNAP91 ENST00000369694 human ensembl 74_37 -1 known missense c.625 p.A209S 1.000 pfam_ANTH_dom pfam_ANTH_dom,pfam_Epsin_dom_N,superfamily_ENTH_VHS,smart_Epsin-like_N,pfscan_Epsin-like_N - no_errors SNAP91 HGNC ENSG00000065609 tier1 - - 40 0 0.00 21 6 22.22 SOGA2 0 genome.wustl.edu 37 18 8720379 8720379 + Missense_Mutation SNP C C T TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 18 8720379 8720379 C T SNP SOGA2 ENST00000359865 human ensembl 74_37 +1 known missense c.242 p.T81M 0.902 NULL pfam_SOGA - no_errors SOGA2 HGNC ENSG00000168502 50 0 0.00 26 3 10.34 SORBS1 0 genome.wustl.edu 37 10 97081740 97081740 + Silent SNP C C T TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 10 97081740 97081740 C T SNP SORBS1 ENST00000607232 human ensembl 74_37 -1 known silent c.3684 p.R1228 1.000 superfamily_SH3_domain pfam_SH3_domain,pfam_SH3_2,pfam_Sorb,superfamily_SH3_domain,smart_Sorb,smart_SH3_domain,pfscan_Sorb,pfscan_SH3_domain,prints_p67phox,prints_SH3_domain - no_errors SORBS1 HGNC ENSG00000095637 80 0 0.00 64 4 5.80 SOX1 0 genome.wustl.edu 37 13 112722081 112722083 + In_Frame_Del DEL GGC GGC - TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 GGC GGC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 13 112722081 112722083 GGC - DEL SOX1 ENST00000330949 human ensembl 74_37 +1 known in_frame_del c.109_111 p.G40in_frame_del 0.029:0.038:0.034 superfamily_HMG_box_dom pfam_HMG_box_dom,pfam_TF_SOX,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors SOX1 HGNC ENSG00000182968 tier1 53 0 0.00 27 2 6.90 SPATA31A2 0 genome.wustl.edu 37 9 39888176 39888176 + Missense_Mutation SNP A A C TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 9 39888176 39888176 A C SNP SPATA31A2 ENST00000456183 human ensembl 74_37 +1 known missense c.1163 p.N388T 0.001 NULL NULL - no_errors SPATA31A2 HGNC ENSG00000204848 tier1 - - 218 0 0.00 117 45 27.78 SPATA31D1 0 genome.wustl.edu 37 9 84607460 84607460 + Missense_Mutation SNP G G A TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 9 84607460 84607460 G A SNP SPATA31D1 ENST00000344803 human ensembl 74_37 +1 known missense c.2075 p.R692Q 0.000 NULL NULL - no_errors SPATA31D1 HGNC ENSG00000214929 tier1 - - 195 0 0.00 107 11 9.32 SPDYE2B 0 genome.wustl.edu 37 7 102294074 102294074 + Missense_Mutation SNP T T C TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 7 102294074 102294074 T C SNP SPDYE2B ENST00000436228 human ensembl 74_37 +1 known missense c.337 p.S113P 0.002 NULL pfam_Cell_cycle_regulatory_Spy1 - no_errors SPDYE2B HGNC ENSG00000173678 tier1 - - 17 0 0.00 8 3 27.27 SPEF1 0 genome.wustl.edu 37 20 3759184 3759184 + Missense_Mutation SNP G G A TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 20 3759184 3759184 G A SNP SPEF1 ENST00000379756 human ensembl 74_37 -1 known missense c.487 p.R163W 0.000 NULL pfam_DUF1042,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_CH-domain - no_errors SPEF1 HGNC ENSG00000101222 tier1 - - 59 0 0.00 43 4 8.51 SPTAN1 0 genome.wustl.edu 37 9 131370475 131370475 + Nonsense_Mutation SNP G G T TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 9 131370475 131370475 G T SNP SPTAN1 ENST00000358161 human ensembl 74_37 +1 known nonsense c.4411 p.E1471* 1.000 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_EF_hand_dom,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,smart_EF_hand_dom,pfscan_EF_hand_dom,pfscan_SH3_domain,prints_Spectrin_alpha_SH3,prints_SH3_domain - no_errors SPTAN1 HGNC ENSG00000197694 44 0 0.00 32 2 5.88 SPTB 0 genome.wustl.edu 37 14 65237816 65237816 + Missense_Mutation SNP A A G TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 14 65237816 65237816 A G SNP SPTB ENST00000389722 human ensembl 74_37 -1 known missense c.5585 p.L1862P 1.000 pirsf_Spectrin_bsu,pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_CAMSAP_CH,pfam_Pleckstrin_homology,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_CH-domain,pfscan_Pleckstrin_homology - no_errors SPTB HGNC ENSG00000070182 tier1 - - 39 0 0.00 15 8 34.78 SRGAP3 0 genome.wustl.edu 37 3 9100157 9100157 + Splice_Site SNP C C T TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 3 9100157 9100157 C T SNP SRGAP3 ENST00000383836 human ensembl 74_37 -1 known splice_site c.802-1 e7-1 1.000 - - - no_errors SRGAP3 HGNC ENSG00000196220 tier1 - - 46 0 0.00 27 9 25.00 STX11 0 genome.wustl.edu 37 6 144508350 144508350 + Missense_Mutation SNP G G A TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 6 144508350 144508350 G A SNP STX11 ENST00000367568 human ensembl 74_37 +1 known missense c.586 p.D196N 1.000 superfamily_t-SNARE pfam_T_SNARE_dom,pfam_Syntaxin_N,superfamily_t-SNARE,smart_Syntaxin_N,smart_T_SNARE_dom,pfscan_T_SNARE_dom - no_errors STX11 HGNC ENSG00000135604 75 0 0.00 50 3 5.66 SUSD2 0 genome.wustl.edu 37 22 24584195 24584195 + Missense_Mutation SNP C C T TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 22 24584195 24584195 C T SNP SUSD2 ENST00000358321 human ensembl 74_37 +1 known missense c.2344 p.R782C 0.070 NULL pfam_AMOP,pfam_VWF_type-D,pfam_Sushi_SCR_CCP,pfam_Somatomedin_B_dom,superfamily_Sushi_SCR_CCP,superfamily_Ig_E-set,smart_AMOP,smart_VWF_type-D,smart_Sushi_SCR_CCP,pfscan_AMOP,pfscan_Somatomedin_B_dom,pfscan_Sushi_SCR_CCP - no_errors SUSD2 HGNC ENSG00000099994 tier1 - - 38 0 0.00 33 12 26.67 SYNJ2 0 genome.wustl.edu 37 6 158505199 158505199 + Silent SNP G G A TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 6 158505199 158505199 G A SNP SYNJ2 ENST00000355585 human ensembl 74_37 +1 known silent c.3201 p.T1067 0.982 NULL pfam_Syja_N,pfam_DUF1866,pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_IPPc,pfscan_RRM_dom,pfscan_Syja_N - no_errors SYNJ2 HGNC ENSG00000078269 66 0 0.00 35 2 5.41 SYT15 0 genome.wustl.edu 37 10 46969283 46969283 + Missense_Mutation SNP G G T TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 10 46969283 46969283 G T SNP SYT15 ENST00000374321 human ensembl 74_37 -1 known missense c.178 p.P60T 0.008 NULL pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom - no_errors SYT15 HGNC ENSG00000204176 tier1 - - 151 0 0.00 114 7 5.74 TBC1D2 0 genome.wustl.edu 37 9 100961830 100961830 + Missense_Mutation SNP G G A TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 9 100961830 100961830 G A SNP TBC1D2 ENST00000375066 human ensembl 74_37 -1 known missense c.2587 p.R863C 0.745 superfamily_Rab-GTPase-TBC_dom pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Pleckstrin_homology,smart_Rab-GTPase-TBC_dom,pfscan_Pleckstrin_homology,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D2 HGNC ENSG00000095383 35 0 0.00 28 2 6.67 TBC1D29 0 genome.wustl.edu 37 17 28890301 28890301 + Missense_Mutation SNP G G A TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 17 28890301 28890301 G A SNP TBC1D29 ENST00000579181 human ensembl 74_37 +1 known missense c.311 p.S104N 0.904 NULL superfamily_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D29 HGNC ENSG00000266733 56 0 0.00 55 6 9.68 TCERG1L 0 genome.wustl.edu 37 10 132915087 132915087 + Missense_Mutation SNP A A G TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 10 132915087 132915087 A G SNP TCERG1L ENST00000368642 human ensembl 74_37 -1 known missense c.1370 p.F457S 1.000 pfam_FF_domain,superfamily_FF_domain,smart_FF_domain pfam_FF_domain,pfam_WW_dom,superfamily_FF_domain,superfamily_WW_dom,smart_WW_dom,smart_FF_domain,pfscan_WW_dom - no_errors TCERG1L HGNC ENSG00000176769 tier1 - - 56 0 0.00 17 22 56.41 TCF20 0 genome.wustl.edu 37 22 42610573 42610575 + In_Frame_Del DEL AGG AGG - TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 AGG AGG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 22 42610573 42610575 AGG - DEL TCF20 ENST00000359486 human ensembl 74_37 -1 known in_frame_del c.739_737 p.S246in_frame_del 1.000:1.000:1.000 NULL smart_Znf_PHD - no_errors TCF20 HGNC ENSG00000100207 tier1 35 0 0.00 18 3 14.29 TGM1 0 genome.wustl.edu 37 14 24727813 24727813 + Missense_Mutation SNP G G T TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 14 24727813 24727813 G T SNP TGM1 ENST00000206765 human ensembl 74_37 -1 known missense c.1226 p.T409K 0.974 pfam_Transglutaminase-like,smart_Transglutaminase-like pfam_Transglutaminase_C,pfam_Transglutaminase_N,pfam_Transglutaminase-like,superfamily_Ig_E-set,superfamily_Transglutaminase_C,smart_Transglutaminase-like - no_errors TGM1 HGNC ENSG00000092295 65 0 0.00 44 4 8.33 THADA 0 genome.wustl.edu 37 2 43735819 43735819 + Missense_Mutation SNP T T A TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 2 43735819 43735819 T A SNP THADA ENST00000405006 human ensembl 74_37 -1 known missense c.3475 p.R1159W 1.000 pfam_DUF2428_death-receptor-like,superfamily_ARM-type_fold pfam_DUF2428_death-receptor-like,superfamily_ARM-type_fold - no_errors THADA HGNC ENSG00000115970 tier1 - - 42 0 0.00 45 4 8.16 THNSL2 0 genome.wustl.edu 37 2 88478333 88478333 + Silent SNP G G A TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 2 88478333 88478333 G A SNP THNSL2 ENST00000324166 human ensembl 74_37 +1 known silent c.603 p.P201 0.987 pfam_Trp_syn_b_sub_like_PLP_eny_SF,superfamily_Trp_syn_b_sub_like_PLP_eny_SF,tigrfam_Thr_synthase_like pfam_Trp_syn_b_sub_like_PLP_eny_SF,superfamily_Trp_syn_b_sub_like_PLP_eny_SF,tigrfam_Thr_synthase_like - no_errors THNSL2 HGNC ENSG00000144115 42 0 0.00 35 2 5.41 THUMPD3 0 genome.wustl.edu 37 3 9426296 9426296 + Missense_Mutation SNP T T C TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 3 9426296 9426296 T C SNP THUMPD3 ENST00000345094 human ensembl 74_37 +1 known missense c.1448 p.I483T 1.000 NULL pfam_RNA_methylase_dom,pfam_THUMP,smart_THUMP,pfscan_THUMP - no_errors THUMPD3 HGNC ENSG00000134077 tier1 - - 23 0 0.00 12 6 33.33 TIMM17A 0 genome.wustl.edu 37 1 201932755 201932755 + Missense_Mutation SNP G G T TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 1 201932755 201932755 G T SNP TIMM17A ENST00000367287 human ensembl 74_37 +1 known missense c.202 p.V68F 0.996 pfam_Tim17/Tim22/Tim23/PMP24,tigrfam_Tim17 pfam_Tim17/Tim22/Tim23/PMP24,tigrfam_Tim17 - no_errors TIMM17A HGNC ENSG00000134375 tier1 - - 71 0 0.00 54 4 6.90 TLL1 0 genome.wustl.edu 37 4 166929126 166929126 + Silent SNP T T G TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 4 166929126 166929126 T G SNP TLL1 ENST00000061240 human ensembl 74_37 +1 known silent c.843 p.P281 0.996 pfam_Peptidase_M12A,smart_Peptidase_Metallo,pirsf_BMP_1/tolloid-like pfam_CUB_dom,pfam_Peptidase_M12A,pfam_EGF-like_Ca-bd_dom,superfamily_CUB_dom,smart_Peptidase_Metallo,smart_CUB_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pirsf_BMP_1/tolloid-like,pfscan_CUB_dom,pfscan_EG-like_dom,prints_Peptidase_M12A - no_errors TLL1 HGNC ENSG00000038295 tier1 - - 54 0 0.00 37 9 19.57 TMTC2 0 genome.wustl.edu 37 12 83290168 83290168 + Missense_Mutation SNP C C G TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 12 83290168 83290168 C G SNP TMTC2 ENST00000321196 human ensembl 74_37 +1 known missense c.1226 p.T409R 1.000 NULL pfam_TPR_1,pfam_TPR_2,pfam_DUF1736,pfam_TPR-4,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TMTC2 HGNC ENSG00000179104 66 0 0.00 49 3 5.77 TNPO3 0 genome.wustl.edu 37 7 128645134 128645134 + Nonsense_Mutation SNP A A T TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 7 128645134 128645134 A T SNP TNPO3 ENST00000393245 human ensembl 74_37 -1 known nonsense c.632 p.L211* 1.000 pfam_Exportin-1/Importin-b-like,superfamily_ARM-type_fold pfam_Exportin-1/Importin-b-like,superfamily_ARM-type_fold - no_errors TNPO3 HGNC ENSG00000064419 tier1 - - 59 0 0.00 46 4 8.00 TONSL 0 genome.wustl.edu 37 8 145661646 145661646 + Missense_Mutation SNP C C T TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 8 145661646 145661646 C T SNP TONSL ENST00000409379 human ensembl 74_37 -1 known missense c.2170 p.A724T 0.039 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_TPR_repeat,smart_Ankyrin_rpt,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR-contain_dom,prints_Ankyrin_rpt - no_errors TONSL HGNC ENSG00000160949 tier1 - - 70 0 0.00 39 5 11.36 TP53 0 genome.wustl.edu 37 17 7578526 7578526 + Missense_Mutation SNP C C A TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 17 7578526 7578526 C A SNP TP53 ENST00000269305 human ensembl 74_37 -1 known missense c.404 p.C135F 1.000 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 tier1 - - 41 0 0.00 13 20 60.61 TPTE 0 genome.wustl.edu 37 21 10914363 10914363 + Silent SNP C C T TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 21 10914363 10914363 C T SNP TPTE ENST00000361285 human ensembl 74_37 -1 known silent c.1356 p.S452 0.768 pfam_Tensin_phosphatase_C2-dom,superfamily_C2_dom,pfscan_Tensin_phosphatase_C2-dom pfam_Tensin_phosphatase_C2-dom,pfam_Dual-sp_phosphatase_cat-dom,pfam_Ion_trans_dom,superfamily_C2_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors TPTE HGNC ENSG00000166157 tier1 - - 148 0 0.00 72 18 20.00 TRHDE 0 genome.wustl.edu 37 12 72666653 72666653 + Missense_Mutation SNP G G A TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 12 72666653 72666653 G A SNP TRHDE ENST00000261180 human ensembl 74_37 +1 known missense c.95 p.R32H 1.000 NULL pfam_Peptidase_M1_N,prints_Peptidase_M1_N - no_errors TRHDE HGNC ENSG00000072657 tier1 - - 19 0 0.00 6 4 40.00 TRIM33 0 genome.wustl.edu 37 1 114969885 114969885 + Missense_Mutation SNP G G T TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 1 114969885 114969885 G T SNP TRIM33 ENST00000358465 human ensembl 74_37 -1 known missense c.1334 p.A445E 1.000 smart_Bbox_C pfam_Bromodomain,pfam_Znf_B-box,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Bromodomain,pfscan_Znf_B-box,pfscan_Znf_PHD-finger,pfscan_Znf_RING,pfscan_Bromodomain,prints_Bromodomain - no_errors TRIM33 HGNC ENSG00000197323 tier1 - - 71 0 0.00 51 4 7.27 TRPC7 0 genome.wustl.edu 37 5 135601939 135601939 + Missense_Mutation SNP C C A TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 5 135601939 135601939 C A SNP TRPC7 ENST00000513104 human ensembl 74_37 -1 known missense c.1314 p.W438C 1.000 tigrfam_TRP_channel pfam_Ion_trans_dom,pfam_TRP_dom,pfam_PKD1_2_channel,superfamily_Ankyrin_rpt-contain_dom,superfamily_ARM-type_fold,smart_Ankyrin_rpt,prints_TRPC7_channel,prints_TRPC_channel,tigrfam_TRP_channel - no_errors TRPC7 HGNC ENSG00000069018 tier1 - - 126 0 0.00 70 4 5.41 TTF1 0 genome.wustl.edu 37 9 135251460 135251460 + Missense_Mutation SNP C C T TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 9 135251460 135251460 C T SNP TTF1 ENST00000334270 human ensembl 74_37 -1 known missense c.2560 p.A854T 0.000 NULL superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors TTF1 HGNC ENSG00000125482 tier1 - - 50 0 0.00 67 4 5.63 TTF2 0 genome.wustl.edu 37 1 117633213 117633213 + Missense_Mutation SNP G G T TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 1 117633213 117633213 G T SNP TTF2 ENST00000369466 human ensembl 74_37 +1 known missense c.2556 p.E852D 0.165 pfam_SNF2_N,superfamily_P-loop_NTPase pfam_SNF2_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_Znf_GRF,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors TTF2 HGNC ENSG00000116830 tier1 - - 77 0 0.00 49 4 7.55 TTN 0 genome.wustl.edu 37 2 179475827 179475827 + Missense_Mutation SNP G G T TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 2 179475827 179475827 G T SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.43325 p.A14442E 0.967 pfam_Ig_I-set,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 tier1 - - 64 0 0.00 25 19 43.18 TUBA8 0 genome.wustl.edu 37 22 18609704 18609704 + Missense_Mutation SNP G G T TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 22 18609704 18609704 G T SNP TUBA8 ENST00000330423 human ensembl 74_37 +1 known missense c.959 p.R320L 1.000 pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tub_FtsZ_C,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Beta_tubulin pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Alpha_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Delta_tubulin,prints_Beta_tubulin - no_errors TUBA8 HGNC ENSG00000183785 60 0 0.00 30 4 11.76 UBBP4 0 genome.wustl.edu 37 17 21731555 21731555 + Missense_Mutation SNP C C A TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 17 21731555 21731555 C A SNP UBBP4 ENST00000578713 human ensembl 74_37 +1 putative missense c.630 p.D210E 1.000 pfam_Ubiquitin_dom,pfam_Rad60/SUMO_like,smart_Ubiquitin_dom,pfscan_Ubiquitin_supergroup pfam_Ubiquitin_dom,pfam_Rad60/SUMO_like,smart_Ubiquitin_dom,pfscan_Ubiquitin_supergroup,prints_Ubiquitin - no_errors UBBP4 HGNC ENSG00000263563 tier1 - - 86 0 0.00 55 5 8.33 UBE2U 0 genome.wustl.edu 37 1 64680522 64680522 + Nonsense_Mutation SNP G G T TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 1 64680522 64680522 G T SNP UBE2U ENST00000371076 human ensembl 74_37 +1 known nonsense c.364 p.E122* 0.752 pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2 pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2 - no_errors UBE2U HGNC ENSG00000177414 tier1 - - 111 0 0.00 67 4 5.63 UNC13B 0 genome.wustl.edu 37 9 35386232 35386232 + Missense_Mutation SNP C C T TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 9 35386232 35386232 C T SNP UNC13B ENST00000378496 human ensembl 74_37 +1 known missense c.2789 p.S930F 1.000 pfam_Ca-dep_secretion_activator pfam_Munc13_subgr_dom-2,pfam_Ca-dep_secretion_activator,pfam_C2_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_C2_dom,smart_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_C2_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_C2_dom - no_errors UNC13B HGNC ENSG00000198722 60 0 0.00 37 2 5.13 UNC5D 0 genome.wustl.edu 37 8 35631964 35631964 + Missense_Mutation SNP C C A TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 8 35631964 35631964 C A SNP UNC5D ENST00000404895 human ensembl 74_37 +1 known missense c.2626 p.Q876K 1.000 pfam_Death_domain,superfamily_DEATH-like_dom,smart_Death_domain pfam_ZU5,pfam_Ig_I-set,pfam_Thrombospondin_1_rpt,pfam_Death_domain,pfam_Immunoglobulin,superfamily_DEATH-like_dom,superfamily_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,smart_Thrombospondin_1_rpt,smart_ZU5,smart_Death_domain,pfscan_Thrombospondin_1_rpt,pfscan_ZU5,pfscan_Ig-like_dom - no_errors UNC5D HGNC ENSG00000156687 tier1 - - 61 0 0.00 20 25 55.56 UNCX 0 genome.wustl.edu 37 7 1273297 1273297 + Missense_Mutation SNP C C T TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 7 1273297 1273297 C T SNP UNCX ENST00000316333 human ensembl 74_37 +1 known missense c.416 p.A139V 1.000 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors UNCX HGNC ENSG00000164853 tier1 - - 118 0 0.00 122 9 6.87 USH2A 0 genome.wustl.edu 37 1 215990529 215990529 + Missense_Mutation SNP T T C TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 1 215990529 215990529 T C SNP USH2A ENST00000366943 human ensembl 74_37 -1 known missense c.9380 p.Q3127R 0.941 superfamily_Fibronectin_type3,smart_Fibronectin_type3 pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N - no_errors USH2A HGNC ENSG00000042781 tier1 - - 30 0 0.00 19 3 13.64 USH2A 0 genome.wustl.edu 37 1 215853681 215853681 + Missense_Mutation SNP G G T TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 1 215853681 215853681 G T SNP USH2A ENST00000366943 human ensembl 74_37 -1 known missense c.12104 p.P4035Q 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N - no_errors USH2A HGNC ENSG00000042781 43 0 0.00 31 2 6.06 VANGL2 0 genome.wustl.edu 37 1 160394067 160394067 + Silent SNP G G A TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 1 160394067 160394067 G A SNP VANGL2 ENST00000368061 human ensembl 74_37 +1 known silent c.1299 p.T433 0.996 pfam_Strabismus,pirsf_Strabismus pfam_Strabismus,pirsf_Strabismus - no_errors VANGL2 HGNC ENSG00000162738 tier1 - - 57 0 0.00 36 11 23.40 VAT1 0 genome.wustl.edu 37 17 41170790 41170790 + Missense_Mutation SNP G G T TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 17 41170790 41170790 G T SNP VAT1 ENST00000355653 human ensembl 74_37 -1 known missense c.414 p.N138K 0.927 superfamily_GroES-like,smart_PKS_ER pfam_ADH_C,pfam_ADH_GroES-like,superfamily_GroES-like,smart_PKS_ER - no_errors VAT1 HGNC ENSG00000108828 41 0 0.00 38 3 7.32 VCAN 0 genome.wustl.edu 37 5 82817499 82817499 + Missense_Mutation SNP G G T TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 5 82817499 82817499 G T SNP VCAN ENST00000265077 human ensembl 74_37 +1 known missense c.3374 p.R1125L 0.000 NULL pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_EG-like_dom,pfam_Sushi_SCR_CCP,superfamily_C-type_lectin_fold,superfamily_Sushi_SCR_CCP,smart_Ig_sub,smart_Link,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like_dom,prints_Link - no_errors VCAN HGNC ENSG00000038427 45 0 0.00 28 2 6.67 VCL 0 genome.wustl.edu 37 10 75877901 75877901 + Missense_Mutation SNP G G T TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 10 75877901 75877901 G T SNP VCL ENST00000211998 human ensembl 74_37 +1 known missense c.3379 p.V1127F 1.000 pfam_Vinculin/catenin,superfamily_Vinculin/catenin pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Vinculin - no_errors VCL HGNC ENSG00000035403 tier1 - - 39 0 0.00 19 10 34.48 VPS13B 0 genome.wustl.edu 37 8 100568859 100568860 + Frame_Shift_Ins INS - - T TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 8 100568859 100568860 - T INS VPS13B ENST00000358544 human ensembl 74_37 +1 known frame_shift_ins c.5002_5003 p.E1669fs 0.994:0.998 NULL pfam_Autophagy-rel_C - no_errors VPS13B HGNC ENSG00000132549 tier1 34 0 0.00 10 2 16.67 WBP4 0 genome.wustl.edu 37 13 41654921 41654921 + Missense_Mutation SNP A A G TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 13 41654921 41654921 A G SNP WBP4 ENST00000379487 human ensembl 74_37 +1 known missense c.896 p.E299G 1.000 NULL pfam_WW_dom,pfam_Znf_U1-C,superfamily_WW_dom,smart_Znf_U1,smart_WW_dom,pfscan_WW_dom,pfscan_Znf_C2H2_matrin - no_errors WBP4 HGNC ENSG00000120688 tier1 - - 56 0 0.00 41 4 8.89 WDR37 0 genome.wustl.edu 37 10 1170271 1170271 + Missense_Mutation SNP G G T TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 10 1170271 1170271 G T SNP WDR37 ENST00000263150 human ensembl 74_37 +1 known missense c.1217 p.R406L 1.000 superfamily_WD40_repeat_dom,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors WDR37 HGNC ENSG00000047056 83 0 0.00 46 3 6.00 WDR45B 0 genome.wustl.edu 37 17 80606364 80606365 + RNA INS - - CGTG TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 17 80606364 80606365 - CGTG INS WDR45B ENST00000574828 human ensembl 74_37 -1 known rna NULL NULL 0.042:0.012 - - - no_errors WDR45B HGNC ENSG00000141580 tier1 8 0 0.00 3 5 62.50 WDR54 0 genome.wustl.edu 37 2 74649471 74649471 + Missense_Mutation SNP G G T TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 2 74649471 74649471 G T SNP WDR54 ENST00000348227 human ensembl 74_37 +1 known missense c.191 p.G64V 0.995 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR54 HGNC ENSG00000005448 tier1 - - 40 0 0.00 17 11 39.29 WISP1 0 genome.wustl.edu 37 8 134233036 134233036 + Missense_Mutation SNP G G A TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 8 134233036 134233036 G A SNP WISP1 ENST00000250160 human ensembl 74_37 +1 known missense c.562 p.D188N 0.776 pirsf_IGFBP_CNN pfam_IGFBP-like,pfam_VWF_C,pfam_Cys_knot,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_IGFBP-like,smart_VWF_C,smart_Thrombospondin_1_rpt,smart_Cys_knot_C,pirsf_IGFBP_CNN,pfscan_Cys_knot_C,pfscan_Thrombospondin_1_rpt,pfscan_VWF_C - no_errors WISP1 HGNC ENSG00000104415 tier1 - - 43 0 0.00 24 72 75.00 WNT2B 0 genome.wustl.edu 37 1 113057570 113057570 + Missense_Mutation SNP G G T TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 1 113057570 113057570 G T SNP WNT2B ENST00000369684 human ensembl 74_37 +1 known missense c.257 p.C86F 1.000 pfam_Wnt,smart_Wnt pfam_Wnt,smart_Wnt,prints_Wnt,prints_Wnt2 - no_errors WNT2B HGNC ENSG00000134245 tier1 - - 67 0 0.00 41 4 8.89 WSCD2 0 genome.wustl.edu 37 12 108589643 108589643 + Missense_Mutation SNP T T G TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 12 108589643 108589643 T G SNP WSCD2 ENST00000261400 human ensembl 74_37 +1 known missense c.34 p.F12V 1.000 NULL pfam_WSC_carb-bd,superfamily_P-loop_NTPase,smart_WSC_carb-bd_subgr,pfscan_WSC_carb-bd - no_errors WSCD2 HGNC ENSG00000075035 tier1 - - 47 0 0.00 14 6 30.00 WT1 0 genome.wustl.edu 37 11 32421555 32421555 + Missense_Mutation SNP G G A TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 11 32421555 32421555 G A SNP WT1 ENST00000332351 human ensembl 74_37 -1 known missense c.1037 p.T346M 0.151 pfam_Wilms_tumour_N pfam_Wilms_tumour_N,pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2,prints_Wilms_tumour - no_errors WT1 HGNC ENSG00000184937 tier1 - - 73 0 0.00 39 12 23.53 WWC1 0 genome.wustl.edu 37 5 167881030 167881032 + In_Frame_Del DEL GGA GGA - TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 GGA GGA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 5 167881030 167881032 GGA - DEL WWC1 ENST00000265293 human ensembl 74_37 +1 known in_frame_del c.2583_2585 p.E865in_frame_del 0.823:0.847:0.815 NULL pfam_WW_dom,superfamily_C2_dom,superfamily_WW_dom,smart_WW_dom,pfscan_WW_dom - no_errors WWC1 HGNC ENSG00000113645 tier1 39 0 0.00 33 4 10.81 XAF1 0 genome.wustl.edu 37 17 6674047 6674047 + Missense_Mutation SNP C C T TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 17 6674047 6674047 C T SNP XAF1 ENST00000361842 human ensembl 74_37 +1 known missense c.593 p.A198V 0.000 NULL superfamily_TRAF-like,pfscan_Znf_TRAF - no_errors XAF1 HGNC ENSG00000132530 tier1 - - 53 0 0.00 42 4 8.70 ZAN 0 genome.wustl.edu 37 7 100377345 100377345 + Missense_Mutation SNP C C T TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 7 100377345 100377345 C T SNP ZAN ENST00000546292 human ensembl 74_37 +1 known missense c.6592 p.P2198S 0.034 pfam_Unchr_dom_Cys-rich,smart_Unchr_dom_Cys-rich pfam_VWF_type-D,pfam_MAM_dom,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_ConA-like_lec_gl_sf,superfamily_TIL_dom,smart_MAM_dom,smart_VWC_out,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_MAM_dom - no_errors ZAN HGNC ENSG00000146839 tier1 - - 75 0 0.00 55 12 17.91 ZC3H4 0 genome.wustl.edu 37 19 47569839 47569839 + Missense_Mutation SNP G G A TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 19 47569839 47569839 G A SNP ZC3H4 ENST00000253048 human ensembl 74_37 -1 known missense c.3686 p.P1229L 0.079 NULL pfam_Znf_CCCH,smart_Znf_CCCH - no_errors ZC3H4 HGNC ENSG00000130749 tier1 - - 100 0 0.00 18 42 70.00 ZCCHC5 0 genome.wustl.edu 37 X 77913195 77913195 + Silent SNP A A C TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 X 77913195 77913195 A C SNP ZCCHC5 ENST00000321110 human ensembl 74_37 -1 known silent c.723 p.T241 0.001 NULL pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_Znf_CCHC,pfscan_Znf_CCHC - no_errors ZCCHC5 HGNC ENSG00000179300 tier1 - - 51 0 0.00 9 40 81.63 ZCCHC6 0 genome.wustl.edu 37 9 88959945 88959945 + Missense_Mutation SNP T T A TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 9 88959945 88959945 T A SNP ZCCHC6 ENST00000375963 human ensembl 74_37 -1 known missense c.944 p.Q315L 1.000 NULL pfam_PAP_assoc,pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_Znf_U1,smart_Znf_CCHC,pfscan_Znf_CCHC - no_errors ZCCHC6 HGNC ENSG00000083223 tier1 - - 92 0 0.00 52 4 7.14 ZFP42 0 genome.wustl.edu 37 4 188924482 188924482 + Missense_Mutation SNP A A T TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 4 188924482 188924482 A T SNP ZFP42 ENST00000326866 human ensembl 74_37 +1 known missense c.521 p.K174M 0.599 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZFP42 HGNC ENSG00000179059 tier1 - - 27 0 0.00 6 15 71.43 ZKSCAN1 0 genome.wustl.edu 37 7 99630966 99630966 + Missense_Mutation SNP A A G TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 7 99630966 99630966 A G SNP ZKSCAN1 ENST00000324306 human ensembl 74_37 +1 known missense c.838 p.K280E 0.647 superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN - no_errors ZKSCAN1 HGNC ENSG00000106261 tier1 - - 67 0 0.00 51 4 7.27 ZMYND8 0 genome.wustl.edu 37 20 45920598 45920598 + Missense_Mutation SNP T T C TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 20 45920598 45920598 T C SNP ZMYND8 ENST00000536340 human ensembl 74_37 -1 known missense c.623 p.Q208R 1.000 pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain pfam_DUF3544,pfam_Bromodomain,pfam_PWWP_dom,pfam_Znf_PHD-finger,pfam_Znf_MYND,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_Bromodomain,smart_PWWP_dom,pfscan_PWWP_dom,pfscan_Znf_MYND,pfscan_Znf_PHD-finger,pfscan_Bromodomain - no_errors ZMYND8 HGNC ENSG00000101040 tier1 - - 34 0 0.00 50 4 7.41 ZNF177 0 genome.wustl.edu 37 19 9491694 9491694 + Missense_Mutation SNP G G T TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 19 9491694 9491694 G T SNP ZNF177 ENST00000434737 human ensembl 74_37 +1 known missense c.687 p.E229D 1.000 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF177 HGNC ENSG00000188629 tier1 - - 48 0 0.00 9 25 71.43 ZNF208 0 genome.wustl.edu 37 19 22154945 22154945 + Missense_Mutation SNP T T G TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 19 22154945 22154945 T G SNP ZNF208 ENST00000397126 human ensembl 74_37 -1 novel missense c.2891 p.K964T 0.006 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF208 HGNC ENSG00000160321 tier1 - - 71 0 0.00 49 4 7.55 ZNF283 0 genome.wustl.edu 37 19 44352455 44352455 + Nonsense_Mutation SNP G G T TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 19 44352455 44352455 G T SNP ZNF283 ENST00000324461 human ensembl 74_37 +1 known nonsense c.1702 p.E568* 1.000 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF283 HGNC ENSG00000167637 tier1 - - 85 0 0.00 22 63 73.26 ZNF431 0 genome.wustl.edu 37 19 21366433 21366433 + Missense_Mutation SNP C C A TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 19 21366433 21366433 C A SNP ZNF431 ENST00000311048 human ensembl 74_37 +1 known missense c.1327 p.L443I 0.002 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF431 HGNC ENSG00000196705 69 0 0.00 35 2 5.41 ZNF500 0 genome.wustl.edu 37 16 4802882 4802882 + Missense_Mutation SNP G G T TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 16 4802882 4802882 G T SNP ZNF500 ENST00000219478 human ensembl 74_37 -1 known missense c.938 p.P313Q 0.000 NULL pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZNF500 HGNC ENSG00000103199 70 0 0.00 22 4 15.38 ZNF521 0 genome.wustl.edu 37 18 22671957 22671957 + Missense_Mutation SNP G G T TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 18 22671957 22671957 G T SNP ZNF521 ENST00000361524 human ensembl 74_37 -1 known missense c.3747 p.F1249L 0.998 pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF521 HGNC ENSG00000198795 tier1 - - 63 0 0.00 73 4 5.19 ZNF597 0 genome.wustl.edu 37 16 3486729 3486729 + Missense_Mutation SNP G G A TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 16 3486729 3486729 G A SNP ZNF597 ENST00000301744 human ensembl 74_37 -1 known missense c.970 p.R324C 0.000 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF597 HGNC ENSG00000167981 50 0 0.00 36 2 5.26 ZNF644 0 genome.wustl.edu 37 1 91403316 91403316 + Silent SNP T T G TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 1 91403316 91403316 T G SNP ZNF644 ENST00000337393 human ensembl 74_37 -1 known silent c.3414 p.S1138 0.999 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF644 HGNC ENSG00000122482 tier1 - - 68 0 0.00 34 10 22.73 ZNF676 0 genome.wustl.edu 37 19 22363641 22363641 + Missense_Mutation SNP G G T TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 19 22363641 22363641 G T SNP ZNF676 ENST00000397121 human ensembl 74_37 -1 known missense c.878 p.S293Y 0.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF676 HGNC ENSG00000196109 tier1 - - 74 0 0.00 65 7 9.72 ZNF676 0 genome.wustl.edu 37 19 22363653 22363653 + Missense_Mutation SNP G G T TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 19 22363653 22363653 G T SNP ZNF676 ENST00000397121 human ensembl 74_37 -1 known missense c.866 p.A289D 0.097 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF676 HGNC ENSG00000196109 tier1 - - 77 0 0.00 65 9 12.16 ZNF773 0 genome.wustl.edu 37 19 58016677 58016677 + Silent SNP A A G TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 19 58016677 58016677 A G SNP ZNF773 ENST00000282292 human ensembl 74_37 +1 known silent c.171 p.A57 0.009 superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF773 HGNC ENSG00000152439 tier1 rs199730365 - 54 0 0.00 54 9 14.29 ZNF789 0 genome.wustl.edu 37 7 99081750 99081750 + Silent SNP C C A TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 7 99081750 99081750 C A SNP ZNF789 ENST00000331410 human ensembl 74_37 +1 known silent c.249 p.S83 0.000 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF789 HGNC ENSG00000198556 58 0 0.00 37 2 5.13 ZNF831 0 genome.wustl.edu 37 20 57768421 57768421 + Missense_Mutation SNP C C T TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 20 57768421 57768421 C T SNP ZNF831 ENST00000371030 human ensembl 74_37 +1 novel missense c.2347 p.P783S 0.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF831 HGNC ENSG00000124203 tier1 - - 146 0 0.00 62 98 61.25 ZSWIM5 0 genome.wustl.edu 37 1 45484793 45484793 + Missense_Mutation SNP C C T TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8 ddee75f6-4848-4756-b16c-c467cf1cb918 1 45484793 45484793 C T SNP ZSWIM5 ENST00000359600 human ensembl 74_37 -1 known missense c.2891 p.S964N 1.000 NULL pfscan_Znf_SWIM - no_errors ZSWIM5 HGNC ENSG00000162415 tier1 - - 42 0 0.00 26 3 10.34